2-209191100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191100
    reference: chr 2
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3397G>A
  hgvsp: ENSP00000405736.1:p.Glu1133Lys
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3565G>A
  hgvsp: ENSP00000264380.4:p.Glu1189Lys
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11475
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1189Lys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-209191100-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191100
    reference: chr 2
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3565G>C
  hgvsp: ENSP00000264380.4:p.Glu1189Gln
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3397G>C
  hgvsp: ENSP00000405736.1:p.Glu1133Gln
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1170
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genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1189Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-209191114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191114
    reference: chr 2
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3411G>A
  hgvsp: ENST00000452564.1:c.3411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3579G>A
  hgvsp: ENST00000264380.4:c.3579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
hgvs: p.Glu1193Glu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

2-209191118-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191118
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191118
    reference: chr 2
allele count: 1
allele frequency: 8.27787159365584e-6
allele num: 120804
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3583G>C
  hgvsp: ENSP00000264380.4:p.Gly1195Arg
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3415G>C
  hgvsp: ENSP00000405736.1:p.Gly1139Arg
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1195Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.075334143377886e-5
  allele num: 16460
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-209191123-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191123
    reference: chr 2
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3588T>G
  hgvsp: ENST00000264380.4:c.3588T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3420T>G
  hgvsp: ENST00000452564.1:c.3420T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11428
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1196Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6606
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-209191126-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191126
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3423T>G
  hgvsp: ENSP00000405736.1:p.Ile1141Met
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3591T>G
  hgvsp: ENSP00000264380.4:p.Ile1197Met
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28083
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11425
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1197Met
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16448
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

2-209191129-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191129
    reference: chr 2
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3594G>T
  hgvsp: ENST00000264380.4:c.3594G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3426G>T
  hgvsp: ENST00000452564.1:c.3426G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7993
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11421
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu1198Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6606
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-209191135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191135
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191135
    reference: chr 2
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3432T>C
  hgvsp: ENST00000452564.1:c.3432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3600T>C
  hgvsp: ENST00000264380.4:c.3600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2918
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2641
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1156
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27903
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp1200Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.514233797698365e-4
  allele num: 6604
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-209191141-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191141
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191141
    reference: chr 2
allele count: 3
allele frequency: 2.489998506000897e-5
allele num: 120482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3438G>C
  hgvsp: ENST00000452564.1:c.3438G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3606G>C
  hgvsp: ENST00000264380.4:c.3606G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1202Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10222
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-209191143-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191143
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191143
    reference: chr 2
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3608G>T
  hgvsp: ENSP00000264380.4:p.Trp1203Leu
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3440G>T
  hgvsp: ENSP00000405736.1:p.Trp1147Leu
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Trp1203Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8602
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

2-209191148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191148
    reference: chr 2
allele count: 3
allele frequency: 2.493972898827833e-5
allele num: 120290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3445A>G
  hgvsp: ENSP00000405736.1:p.Thr1149Ala
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3613A>G
  hgvsp: ENSP00000264380.4:p.Thr1205Ala
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr1205Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16402
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-209191158-G-GCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191160
    reference: chr 2
allele count: 1
allele frequency: 8.338614455822021e-6
allele num: 119924
alternate allele: GCC
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+6_3450+7dupCC
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+6_3618+7dupCC
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.3618+6_3618+7dupCC
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8578
  num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-209191160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191160
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191160
    reference: chr 2
allele count: 2
allele frequency: 1.668724760537997e-5
allele num: 119852
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+7C>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+7C>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2728
  bin: 7.25e1
  variant carriers: 0
hgvs: c.3618+7C>T
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66014
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-209191161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191161
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191161
    reference: chr 2
allele count: 3
allele frequency: 2.503713842199262e-5
allele num: 119822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+8A>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+8A>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.3618+8A>G
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11332
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-209191174-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191174
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191174
    reference: chr 2
allele count: 1
allele frequency: 8.393345755485052e-6
allele num: 119142
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+21A>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+21A>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6552
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-209191177-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191177
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191177
    reference: chr 2
allele count: 3
allele frequency: 2.521728897332011e-5
allele num: 118966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+24C>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+24C>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9984
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-209191183-T-TACTTCTGGATTGCCACCTCCACCATCTTAACTTTCTGTTTGTTTTTGTTTGTAGAACAAACCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191247
    reference: chr 2
allele count: 1
allele frequency: 8.421761832575375e-6
allele num: 118740
alternate allele: TACTTCTGGATTGCCACCTCCACCATCTTAACTTTCTGTTTGTTTTTGTTTGTAGAACAAACCAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8436
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-209191185-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191185
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191185
    reference: chr 2
allele count: 2
allele frequency: 1.686568171085475e-5
allele num: 118584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+32C>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+32C>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11323
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16176
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-209191185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191185
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191185
    reference: chr 2
allele count: 1
allele frequency: 8.432840855427377e-6
allele num: 118584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+32C>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+32C>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 19304
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 11323
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.528304193666707e-5
  allele num: 65432
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-209191195-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209191195
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209191194
    reference: chr 2
allele count: 11
allele frequency: 9.319032853826733e-5
allele num: 118038
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3618+43delT
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3450+43delT
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12438
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2800
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
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genotype quality: GenotypeQuality
  all individuals: 192
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genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 11322
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2950
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3012
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1345
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1947
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 6
  allele frequency: 9.171507184347294e-4
  allele num: 6542
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: GT
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

2-209192859-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192859
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192859
    reference: chr 2
allele count: 17
allele frequency: 1.40338132347114e-4
allele num: 121136
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-45T>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-45T>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10395
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2662
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 17
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3020
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3828
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genotype quality: GenotypeQuality
  all individuals: 10916
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-209192860-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192860
    reference: chr 2
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-44G>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-44G>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10398
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11002
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16500
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-209192861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192861
    reference: chr 2
allele count: 2
allele frequency: 1.652947204866277e-5
allele num: 120996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-43C>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-43C>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1982
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
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genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22870
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 198
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10938
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.159017153453871e-4
  allele num: 8628
  num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-209192862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192862
    reference: chr 2
allele count: 5
allele frequency: 4.129501156260323e-5
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-42G>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-42G>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3273
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10642
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8630
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-209192865-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192865
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192864
    reference: chr 2
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-38delG
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-38delG
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
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genotype depth: GenotypeDepth
  all individuals: 957
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genotype depth: GenotypeDepth
  all individuals: 198
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22902
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6588
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: TG
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-209192870-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192870
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192870
    reference: chr 2
allele count: 2
allele frequency: 1.650192247396822e-5
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-34T>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-34T>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-209192871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192871
    reference: chr 2
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-33C>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-33C>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-209192873-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192873
    reference: chr 2
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-31C>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-31C>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6586
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

2-209192877-CTCATCCAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192877
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192869
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: CTCATCCAT
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-209192882-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192882
    reference: chr 2
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3451-22C>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3619-22C>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 5112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22887
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-209192915-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192915
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192915
    reference: chr 2
allele count: 6
allele frequency: 4.943805411818991e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3462G>T
  hgvsp: ENST00000452564.1:c.3462G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3630G>T
  hgvsp: ENST00000264380.4:c.3630G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12050
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22891
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1210Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-209192918-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192918
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192918
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3633T>A
  hgvsp: ENSP00000264380.4:p.Asn1211Lys
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3465T>A
  hgvsp: ENSP00000405736.1:p.Asn1155Lys
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12050
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 4744
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn1211Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-209192919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192919
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3634C>T
  hgvsp: ENSP00000264380.4:p.Pro1212Ser
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3466C>T
  hgvsp: ENSP00000405736.1:p.Pro1156Ser
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 15
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genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 5391
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5111
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genotype quality: GenotypeQuality
  all individuals: 22886
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genotype quality: GenotypeQuality
  all individuals: 2377
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  variant carriers: 0
hgvs: p.Pro1212Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

2-209192922-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192922
    reference: chr 2
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3469A>G
  hgvsp: ENSP00000405736.1:p.Ile1157Val
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3637A>G
  hgvsp: ENSP00000264380.4:p.Ile1213Val
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2762
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4268
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile1213Val
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

2-209192924-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192924
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192924
    reference: chr 2
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3639T>A
  hgvsp: ENST00000264380.4:c.3639T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3471T>A
  hgvsp: ENST00000452564.1:c.3471T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22888
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5110
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile1213Ile
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-209192925-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192925
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192925
    reference: chr 2
allele count: 8
allele frequency: 6.59108884787767e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3472A>T
  hgvsp: ENSP00000405736.1:p.Asn1158Tyr
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3640A>T
  hgvsp: ENSP00000264380.4:p.Asn1214Tyr
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6643
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12056
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22889
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1214Tyr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 5.994664748373947e-5
  allele num: 66726
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-209192930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192930
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192930
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3645C>T
  hgvsp: ENST00000264380.4:c.3645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3477C>T
  hgvsp: ENST00000452564.1:c.3477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8088
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12062
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22883
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His1215His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-209192943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192943
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3490G>A
  hgvsp: ENSP00000405736.1:p.Val1164Met
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3658G>A
  hgvsp: ENSP00000264380.4:p.Val1220Met
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22884
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 5110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6648
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val1220Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-209192974-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192974
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192974
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3689G>T
  hgvsp: ENSP00000264380.4:p.Ser1230Ile
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3521G>T
  hgvsp: ENSP00000405736.1:p.Ser1174Ile
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4739
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22884
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser1230Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-209192980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192980
    reference: chr 2
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3527C>T
  hgvsp: ENSP00000405736.1:p.Ala1176Val
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3695C>T
  hgvsp: ENSP00000264380.4:p.Ala1232Val
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1232Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-209192991-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192991
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192991
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3538T>A
  hgvsp: ENSP00000405736.1:p.Cys1180Ser
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3706T>A
  hgvsp: ENSP00000264380.4:p.Cys1236Ser
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 5108
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22880
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6647
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys1236Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-209192997-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209192997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209192997
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3712A>C
  hgvsp: ENSP00000264380.4:p.Ser1238Arg
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3544A>C
  hgvsp: ENSP00000405736.1:p.Ser1182Arg
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
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genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12030
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3823
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5108
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4738
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1238Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66712
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

2-209193004-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193004
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719G>C
  hgvsp: ENSP00000264380.4:p.Trp1240Ser
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551G>C
  hgvsp: ENSP00000405736.1:p.Trp1184Ser
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22878
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Trp1240Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-209193004-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193004
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551G>T
  hgvsp: ENSP00000405736.1:p.Trp1184Leu
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719G>T
  hgvsp: ENSP00000264380.4:p.Trp1240Leu
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 31
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12012
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 5109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22878
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp1240Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

2-209193011-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193011
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193011
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+7T>C
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+7T>C
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1985
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3824
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
hgvs: c.3719+7T>C
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499295331194339e-5
  allele num: 66698
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-209193018-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193018
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193018
    reference: chr 2
allele count: 7
allele frequency: 5.771482281549396e-5
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+14C>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+14C>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 2.601456815816858e-4
  allele num: 11532
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-209193021-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193021
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193021
    reference: chr 2
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+17C>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+17C>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10445
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-209193023-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193024
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+20dupA
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+20dupA
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
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genotype depth: GenotypeDepth
  all individuals: 1985
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11528
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-209193025-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193025
    reference: chr 2
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+21C>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+21C>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66662
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-209193027-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193027
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193027
    reference: chr 2
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+23C>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+23C>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11518
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-209193036-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193036
    reference: chr 2
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+32A>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+32A>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-209193041-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193041
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193041
    reference: chr 2
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+37A>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+37A>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.05913717886573e-5
  allele num: 16504
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

2-209193044-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193044
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193044
    reference: chr 2
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+40A>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+40A>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11510
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-209193056-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193055
    reference: chr 2
allele count: 3
allele frequency: 2.489089491064169e-5
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+54delT
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+54delT
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
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  allele num: 11446
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: AT
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
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site quality: ClippingRankSum

2-209193056-ATT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209193056
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209193054
    reference: chr 2
allele count: 4
allele frequency: 3.318785988085559e-5
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3719+53_3719+54delTT
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3551+53_3551+54delTT
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: ATT
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-209194516-C-CTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194518
    reference: chr 2
allele count: 1
allele frequency: 8.921084090138634e-6
allele num: 112094
alternate allele: CTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-49_3720-48insTT
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-49_3552-48insTT
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11852
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10724
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-209194518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194518
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194518
    reference: chr 2
allele count: 8
allele frequency: 7.133939718209382e-5
allele num: 112140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-48C>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-48C>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10042
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2486
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1007
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genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: African
  type: Population
  allele count: 8
  allele frequency: 7.945967421533572e-4
  allele num: 10068
  num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

2-209194519-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194519
    reference: chr 2
allele count: 1
allele frequency: 8.910273545397843e-6
allele num: 112230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-47T>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-47T>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
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genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4203
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7707
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genotype quality: GenotypeQuality
  all individuals: 16071
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.656561640658649e-5
  allele num: 60366
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-209194519-TGGGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194515
    reference: chr 2
allele count: 1
allele frequency: 8.910273545397843e-6
allele num: 112230
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-46_3720-43delGGGG
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-46_3552-43delGGGG
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10037
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7707
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4783
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3780
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6402
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: TGGGG
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-209194522-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194522
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194522
    reference: chr 2
allele count: 2
allele frequency: 1.779961196845909e-5
allele num: 112362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-44G>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-44G>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4731
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10070
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

2-209194523-G-GTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194525
    reference: chr 2
allele count: 1
allele frequency: 8.902975374370115e-6
allele num: 112322
alternate allele: GTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-43_3720-42insTT
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-43_3552-42insTT
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 269
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18756
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2311
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genotype quality: GenotypeQuality
  all individuals: 497
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.932459276916965e-5
  allele num: 10068
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-209194523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194523
    reference: chr 2
allele count: 1
allele frequency: 8.902975374370115e-6
allele num: 112322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-43G>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-43G>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 269
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 60448
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-209194525-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194525
    reference: chr 2
allele count: 21
allele frequency: 1.863750931875466e-4
allele num: 112676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-41A>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-41A>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15383
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 311
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4461
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1224
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7715
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 4478
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1703
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genotype quality: GenotypeQuality
  all individuals: 1200
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genotype quality: GenotypeQuality
  all individuals: 993
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10090
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-209194526-TGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194524
    reference: chr 2
allele count: 1
allele frequency: 8.882256803808711e-6
allele num: 112584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-39_3720-38delGG
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-39_3552-38delGG
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10084
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: TGG
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-209194528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194528
    reference: chr 2
allele count: 1
allele frequency: 8.874531868443939e-6
allele num: 112682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-38G>C
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-38G>C
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.648478454386601e-5
  allele num: 60662
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-209194529-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194528
    reference: chr 2
allele count: 1
allele frequency: 8.865405414989627e-6
allele num: 112798
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-35delA
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-35delA
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15810
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: TA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-209194531-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194531
    reference: chr 2
allele count: 1
allele frequency: 8.857552835302662e-6
allele num: 112898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-35A>T
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-35A>T
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6416
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-209194535-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194535
    reference: chr 2
allele count: 1
allele frequency: 8.833298000141333e-6
allele num: 113208
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-31T>C
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-31T>C
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8082
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-209194537-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194536
    reference: chr 2
allele count: 2
allele frequency: 1.764290755116443e-5
allele num: 113360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-28delT
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-28delT
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15878
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: AT
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

2-209194538-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194538
    reference: chr 2
allele count: 6
allele frequency: 5.288300516490684e-5
allele num: 113458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-28T>C
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-28T>C
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1676
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 565
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.904845987835982e-5
  allele num: 61164
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-209194545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194545
    reference: chr 2
allele count: 1
allele frequency: 8.745845723281442e-6
allele num: 114340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-21A>G
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-21A>G
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6454
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-209194548-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194548
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194548
    reference: chr 2
allele count: 6
allele frequency: 5.221205054126493e-5
allele num: 114916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-18A>C
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-18A>C
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 872
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-209194553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194553
    reference: chr 2
allele count: 5
allele frequency: 4.326007959854646e-5
allele num: 115580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-13G>A
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-13G>A
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8324
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-209194554-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194554
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 115738
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-12T>C
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-12T>C
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11100
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-209194555-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194552
    reference: chr 2
allele count: 3
allele frequency: 2.589689582542039e-5
allele num: 115844
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-6_3720-4delCTT
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-6_3552-4delCTT
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.3720-6_3720-4delCTT
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8348
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: CTCT
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-209194559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194559
    reference: chr 2
allele count: 2
allele frequency: 1.719187855656988e-5
allele num: 116334
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3720-7T>C
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3552-7T>C
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1291
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hgvs: c.3720-7T>C
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6508
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-209194574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 209194574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 209194574
    reference: chr 2
allele count: 3
allele frequency: 2.546386677304904e-5
allele num: 117814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000405736
  ensembl transcript: ENST00000452564
  gene symbol: PIKFYVE
  hgvsc: ENST00000452564.1:c.3560C>T
  hgvsp: ENSP00000405736.1:p.Thr1187Ile
  variant of: http://identifiers.org/hgnc/23785
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115020
  ensembl protein: ENSP00000264380
  ensembl transcript: ENST00000264380
  gene symbol: PIKFYVE
  hgvsc: ENST00000264380.4:c.3728C>T
  hgvsp: ENSP00000264380.4:p.Thr1243Ile
  variant of: http://identifiers.org/hgnc/23785
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 388
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  variant carriers: 0
hgvs: p.Thr1243Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10208
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
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: 8626
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.51e-1

DP
type: SiteQuality
SIO_000300: 2.085339e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
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: 1.50271992306074e-5
allele num: 66546
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.51e-1

FS
type: SiteQuality
SIO_000300: 3.81e0

DP
type: SiteQuality
SIO_000300: 2.085339e6

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

VQSLOD
type: SiteQuality
SIO_000300: -1.157e0

MQ
type: SiteQuality
SIO_000300: 5.876e1

QD
type: SiteQuality
SIO_000300: 1.109e1

FS
type: SiteQuality
SIO_000300: 2.481e0

DP
type: SiteQuality
SIO_000300: 2.081947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.080962e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.096e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
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: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

DP
type: SiteQuality
SIO_000300: 2.07891e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.781e-1

QD
type: SiteQuality
SIO_000300: 1.517e1

FS
type: SiteQuality
SIO_000300: 7.492e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 2.077939e6

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.076216e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.126e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.69e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66346
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

VQSLOD
type: SiteQuality
SIO_000300: -3.327e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 2.1358e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.83e-1

DP
type: SiteQuality
SIO_000300: 2.073153e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
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: 2
allele frequency: 1.748863238894718e-4
allele num: 11436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 2.0799e1

VQSLOD
type: SiteQuality
SIO_000300: -3.302e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 2.069133e6

QD
type: SiteQuality
SIO_000300: 8.15e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
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: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.76e0

VQSLOD
type: SiteQuality
SIO_000300: -1.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

FS
type: SiteQuality
SIO_000300: 3.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.065257e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020691738408095e-5
allele num: 66210
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.061517e6

VQSLOD
type: SiteQuality
SIO_000300: -1.14e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

FS
type: SiteQuality
SIO_000300: 5.209e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.121e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
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: 16336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 1.438e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 5.513e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 2.043888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.071e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.977456990310461e-4
allele num: 10114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 4.873e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

DP
type: SiteQuality
SIO_000300: 2.038717e6

QD
type: SiteQuality
SIO_000300: 9.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.111e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.545041359876375e-5
allele num: 66006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.672e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.449e1

DP
type: SiteQuality
SIO_000300: 2.035245e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522440777053773e-5
allele num: 65684
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11260
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

QD
type: SiteQuality
SIO_000300: 1.083e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.970839e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
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European (Finnish)
type: Population
allele count: 2
allele frequency: 3.053435114503817e-4
allele num: 6550
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524483200195134e-5
allele num: 65596
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.467e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 6.547e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.743e0

DP
type: SiteQuality
SIO_000300: 1.952828e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526531110704036e-5
allele num: 65508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11222
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
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FS
type: SiteQuality
SIO_000300: 3.418e0

MQ
type: SiteQuality
SIO_000300: 5.588e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.413e0

VQSLOD
type: SiteQuality
SIO_000300: -4.876e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.3e-1

DP
type: SiteQuality
SIO_000300: 1.912289e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.169e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.056608387333415e-5
allele num: 65432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.999e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 1.900347e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.005e0

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.999e0

DP
type: SiteQuality
SIO_000300: 1.900347e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.005e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

QD
type: SiteQuality
SIO_000300: 1.168e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.140997297961189e-5
allele num: 65136
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.965393580778196e-5
allele num: 11154
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

DP
type: SiteQuality
SIO_000300: 1.837795e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

QD
type: SiteQuality
SIO_000300: 1.571e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.852709587772117e-3
allele num: 8636
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.421e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 2.854782e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.466e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
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East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
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MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.855748e6

MQRankSum
type: SiteQuality
SIO_000300: -1.617e0

VQSLOD
type: SiteQuality
SIO_000300: -2.936e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.789e0

QD
type: SiteQuality
SIO_000300: 5.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.358e0

DP
type: SiteQuality
SIO_000300: 2.85745e6

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00817111271329e-5
allele num: 66576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

DP
type: SiteQuality
SIO_000300: 2.859912e6

FS
type: SiteQuality
SIO_000300: 1.623e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11510
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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allele num: 906
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.048e1

DP
type: SiteQuality
SIO_000300: 2.861507e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.42e-1

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.597e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.067e0

VQSLOD
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 2.864191e6

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.517e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.648e-1

FS
type: SiteQuality
SIO_000300: 3.913e0

QD
type: SiteQuality
SIO_000300: 1.195e1

MQ
type: SiteQuality
SIO_000300: 5.851e1

DP
type: SiteQuality
SIO_000300: 2.864774e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
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allele num: 10402
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.859e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

DP
type: SiteQuality
SIO_000300: 2.865375e6

VQSLOD
type: SiteQuality
SIO_000300: -3.471e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

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: 6594
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.034e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.432e0

QD
type: SiteQuality
SIO_000300: 5.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.866151e6

MQ
type: SiteQuality
SIO_000300: 5.293e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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East Asian
type: Population
allele count: 0
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allele num: 8648
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QD
type: SiteQuality
SIO_000300: 1.764e1

DP
type: SiteQuality
SIO_000300: 2.867165e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.557e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 5.64e0

VQSLOD
type: SiteQuality
SIO_000300: -2.114e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.992805755395684e-5
allele num: 66720
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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East Asian
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allele count: 0
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African
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allele count: 0
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South Asian
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.41e-1

FS
type: SiteQuality
SIO_000300: 1.305e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

Other
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allele num: 908
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East Asian
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allele num: 8654
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African
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allele num: 10406
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Latino
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allele num: 11556
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 4.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.44e-1

DP
type: SiteQuality
SIO_000300: 2.869197e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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allele num: 16510
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.9e-1

DP
type: SiteQuality
SIO_000300: 2.869241e6

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.011e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
type: Population
allele count: 0
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allele num: 16510
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
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Latino
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allele count: 0
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allele num: 11560
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FS
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

DP
type: SiteQuality
SIO_000300: 2.869309e6

MQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49599856128046e-5
allele num: 66726
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Latino
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 2.869576e6

FS
type: SiteQuality
SIO_000300: 2.641e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.174e1

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

East Asian
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allele num: 8654
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South Asian
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allele frequency: 2.422774076317383e-4
allele num: 16510
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African
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allele count: 0
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Latino
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Other
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -7.59e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.870051e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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East Asian
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allele count: 0
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allele num: 8654
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Latino
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European (Finnish)
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allele num: 6612
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

DP
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.919e0

African
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allele count: 0
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South Asian
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allele frequency: 6.056201550387597e-5
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European (Finnish)
type: Population
allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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Other
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.622e1

FS
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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Latino
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allele frequency: 0.0e0
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East Asian
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allele count: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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Other
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allele count: 0
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.869734e6

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
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East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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European (Finnish)
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allele count: 0
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allele num: 6612
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.06e-1

DP
type: SiteQuality
SIO_000300: 2.869634e6

East Asian
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
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Other
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FS
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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East Asian
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Latino
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African
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South Asian
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allele frequency: 6.056935190793458e-5
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European (Finnish)
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Other
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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African
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allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

South Asian
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East Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e0

FS
type: SiteQuality
SIO_000300: 4.845e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

DP
type: SiteQuality
SIO_000300: 2.868977e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: -1.605e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.865e0

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

DP
type: SiteQuality
SIO_000300: 2.868373e6

VQSLOD
type: SiteQuality
SIO_000300: -6.257e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

FS
type: SiteQuality
SIO_000300: 6.913e0

QD
type: SiteQuality
SIO_000300: 1.481e1

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: 4
allele frequency: 5.998260504453708e-5
allele num: 66686
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: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.833e0

QD
type: SiteQuality
SIO_000300: 1.16e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 2.867533e6

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: 11534
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.872e0

DP
type: SiteQuality
SIO_000300: 2.866902e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.753e0

QD
type: SiteQuality
SIO_000300: 1.158e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.409e0

QD
type: SiteQuality
SIO_000300: 1.729e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

FS
type: SiteQuality
SIO_000300: 4.139e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

DP
type: SiteQuality
SIO_000300: 2.866238e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.913e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.077e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.865398e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

FS
type: SiteQuality
SIO_000300: 4.771e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.727e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

DP
type: SiteQuality
SIO_000300: 2.865294e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.861906e6

VQSLOD
type: SiteQuality
SIO_000300: -9.162e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.464e0

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: 11512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 1.138e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.179999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.858788e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.71e0

FS
type: SiteQuality
SIO_000300: 2.415e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.99e-1

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
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: 8642
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.853996e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.126e0

QD
type: SiteQuality
SIO_000300: 1.517e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 3.193e0

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017774692941425e-5
allele num: 66274
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

DP
type: SiteQuality
SIO_000300: 2.823834e6

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

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: 4
allele frequency: 6.03554938588285e-5
allele num: 66274
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
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allele num: 8516
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.823834e6

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60288
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.928514694201747e-5
allele num: 10072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15766
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

MQRankSum
type: SiteQuality
SIO_000300: -2.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.177e1

QD
type: SiteQuality
SIO_000300: 1.677e1

DP
type: SiteQuality
SIO_000300: 1.639528e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15760
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 2.436e0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.388e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.642407e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.644938e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 6.127e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60366
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

DP
type: SiteQuality
SIO_000300: 1.644938e6

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 6.127e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.388e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.857010213556174e-4
allele num: 10770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15800
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60452
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

QD
type: SiteQuality
SIO_000300: 2.188e1

VQSLOD
type: SiteQuality
SIO_000300: -2.202e0

DP
type: SiteQuality
SIO_000300: 1.653612e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.224e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10754
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60448
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8006
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MQRankSum
type: SiteQuality
SIO_000300: -2.18e0

FS
type: SiteQuality
SIO_000300: 6.979e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

DP
type: SiteQuality
SIO_000300: 1.657294e6

South Asian
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allele count: 1
allele frequency: 6.336332530731213e-5
allele num: 15782
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8006
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10754
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10068
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.852e0

MQ
type: SiteQuality
SIO_000300: 5.352e1

FS
type: SiteQuality
SIO_000300: 6.979e0

QD
type: SiteQuality
SIO_000300: 1.13e1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.657294e6

South Asian
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allele count: 1
allele frequency: 6.32351081320349e-5
allele num: 15814
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10802
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

East Asian
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allele count: 19
allele frequency: 2.365537848605578e-3
allele num: 8032
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60658
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Other
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
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DP
type: SiteQuality
SIO_000300: 1.667871e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 2.124e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.257e1

East Asian
type: Population
allele count: 1
allele frequency: 1.244400199104032e-4
allele num: 8036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6404
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60626
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15802
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FS
type: SiteQuality
SIO_000300: 7.812e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: -2.321e0

QD
type: SiteQuality
SIO_000300: 7.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.629e1

DP
type: SiteQuality
SIO_000300: 1.672261e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15824
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.682268e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10814
num of homozygotes: 0

African
type: Population
allele count: 0
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allele num: 10098
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East Asian
type: Population
allele count: 1
allele frequency: 1.241619071268935e-4
allele num: 8054
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60738
num of homozygotes: 0

Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.687975e6

FS
type: SiteQuality
SIO_000300: 5.229e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.294e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.155e1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60816
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 10810
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.241002730206007e-4
allele num: 8058
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
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QD
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.822e0

MQ
type: SiteQuality
SIO_000300: 5.574e1

DP
type: SiteQuality
SIO_000300: 1.698287e6

FS
type: SiteQuality
SIO_000300: 7.258e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.924e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

VQSLOD
type: SiteQuality
SIO_000300: -5.889e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

Other
type: Population
allele count: 0
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allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15866
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.639344262295082e-5
allele num: 61000
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.889e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.716447e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.421e0

Latino
type: Population
allele count: 0
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African
type: Population
allele count: 2
allele frequency: 1.977066034005536e-4
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61098
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 868
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

MQ
type: SiteQuality
SIO_000300: 6.015e1

FS
type: SiteQuality
SIO_000300: 1.494e0

DP
type: SiteQuality
SIO_000300: 1.725453e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

South Asian
type: Population
allele count: 1
allele frequency: 6.295643414756988e-5
allele num: 15884
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
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allele num: 10106
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Latino
type: Population
allele count: 2
allele frequency: 1.838911364472232e-4
allele num: 10876
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MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.730119e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
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Other
type: Population
allele count: 0
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allele num: 868
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619275859835481e-5
allele num: 61756
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 6.345e0

DP
type: SiteQuality
SIO_000300: 1.765708e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62140
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11038
num of homozygotes: 0

South Asian
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allele count: 0
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East Asian
type: Population
allele count: 6
allele frequency: 7.246376811594203e-4
allele num: 8280
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10166
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 2.201e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11090
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.982629797560508e-5
allele num: 62636
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

FS
type: SiteQuality
SIO_000300: 5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

DP
type: SiteQuality
SIO_000300: 1.796969e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
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African
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allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62750
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 15998
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.155e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.798879e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.07e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.774941109059655e-5
allele num: 62828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.687e1

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

DP
type: SiteQuality
SIO_000300: 1.802576e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583180292571718e-5
allele num: 63164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16056
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.817396426467701e-5
allele num: 10186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.885999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.837e0

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 6.23e0

DP
type: SiteQuality
SIO_000300: 1.811492e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

South Asian
type: Population
allele count: 3
allele frequency: 1.856435643564356e-4
allele num: 16160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.838629e6

VQSLOD
type: SiteQuality
SIO_000300: -4.508e-1

FS
type: SiteQuality
SIO_000300: 8.707000000000001e0

QD
type: SiteQuality
SIO_000300: 8.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.49e-1