http://identifiers.org/exac.variant/2-197777789-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777789
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777789
    reference: chr 2
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-12T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-12T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13405T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-12T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-12T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13405T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-12T>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2986
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29056
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-197777794-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777794
    reference: chr 2
allele count: 4
allele frequency: 3.35536690937154e-5
allele num: 119212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13400G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13400G>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9562
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6005
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-197777794-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777794
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777794
    reference: chr 2
allele count: 1
allele frequency: 8.38841727342885e-6
allele num: 119212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13400G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13400G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-17G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-197777798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777798
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777798
    reference: chr 2
allele count: 25
allele frequency: 2.100981578593519e-4
allele num: 118992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-21C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-21C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13396C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-21C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-21C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-21C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13396C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16857
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18971
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9488
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2655
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

2-197777802-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777802
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777802
    reference: chr 2
allele count: 1
allele frequency: 8.430850166930833e-6
allele num: 118612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13392A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-25A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-25A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-25A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-25A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-25A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13392A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18382
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5983
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

2-197777805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777805
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777805
    reference: chr 2
allele count: 4
allele frequency: 3.37894914681534e-5
allele num: 118380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-28A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-28A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13389A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-28A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-28A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-28A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13389A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-197777807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777807
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777807
    reference: chr 2
allele count: 2
allele frequency: 1.69090294217112e-5
allele num: 118280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-30C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-30C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-30C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13387C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13387C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-30C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-30C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9044
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 24929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-197777808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777808
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777808
    reference: chr 2
allele count: 45
allele frequency: 3.81149207209649e-4
allele num: 118064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-31G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13386G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-31G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-31G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-31G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-31G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13386G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16037
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7090
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17277
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-197777809-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197777809
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197777809
    reference: chr 2
allele count: 2
allele frequency: 1.694082569584441e-5
allele num: 118058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.622-32C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.478-32C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.352-32C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*409-32C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+13385C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+13385C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.478-32C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-197781095-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781095
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781095
    reference: chr 2
allele count: 1
allele frequency: 8.772237622372715e-6
allele num: 113996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+47C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10099C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10099C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+47C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+47C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+47C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+47C>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-197781098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781098
    reference: chr 2
allele count: 1
allele frequency: 8.770545001666403e-6
allele num: 114018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+44C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10096C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10096C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+44C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+44C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+44C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+44C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-197781100-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781100
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781100
    reference: chr 2
allele count: 2
allele frequency: 1.754324409669836e-5
allele num: 114004
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+42G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+42G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+42G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10094G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+42G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10094G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+42G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

2-197781101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781101
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781101
    reference: chr 2
allele count: 81
allele frequency: 7.081657632453226e-4
allele num: 114380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+41C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10093C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+41C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+41C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+41C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+41C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10093C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 25963
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16738
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-197781101-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781101
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781101
    reference: chr 2
allele count: 1
allele frequency: 8.742787200559538e-6
allele num: 114380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+41C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+41C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+41C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+41C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10093C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10093C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+41C>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-197781103-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781103
    reference: chr 2
allele count: 1
allele frequency: 8.739578053171594e-6
allele num: 114422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10091A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+39A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+39A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10091A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+39A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+39A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+39A>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6347
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-197781103-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781103
    reference: chr 2
allele count: 4
allele frequency: 3.495831221268637e-5
allele num: 114422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+39A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+39A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+39A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10091A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+39A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10091A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+39A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2699
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-197781126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781126
    reference: chr 2
allele count: 1
allele frequency: 8.608963652955456e-6
allele num: 116158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+16G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+16G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+16G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10068G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+16G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+16G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10068G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

2-197781127-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781127
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781127
    reference: chr 2
allele count: 1
allele frequency: 8.588114050154586e-6
allele num: 116440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+15T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+15T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+15T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+15T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+15T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10067T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10067T>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43446
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-197781129-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781129
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781129
    reference: chr 2
allele count: 1
allele frequency: 8.573388203017833e-6
allele num: 116640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+13T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+13T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+13T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10065T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10065T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+13T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+13T>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-197781131-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781131
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781131
    reference: chr 2
allele count: 1
allele frequency: 8.557394444539527e-6
allele num: 116858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+11A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+11A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+11A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+11A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+11A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10063A>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10063A>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43809
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-197781136-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781136
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781136
    reference: chr 2
allele count: 1
allele frequency: 8.520355128401752e-6
allele num: 117366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10058A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.621+6A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10058A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.351+6A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*408+6A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.477+6A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.477+6A>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
hgvs: c.477+6A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-197781146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781146
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781146
    reference: chr 2
allele count: 2
allele frequency: 1.686511282760482e-5
allele num: 118588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.617A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.473A>G
  hgvsp: ENSP00000346809.3:p.Tyr158Cys
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10048A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*404A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10048A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.473A>G
  hgvsp: ENSP00000387028.1:p.Tyr158Cys
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.347A>G
  hgvsp: ENSP00000386802.1:p.Tyr116Cys
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26977
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr158Cys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

2-197781147-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781147
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781147
    reference: chr 2
allele count: 1
allele frequency: 8.423180592991915e-6
allele num: 118720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.472T>C
  hgvsp: ENSP00000387028.1:p.Tyr158His
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.472T>C
  hgvsp: ENSP00000346809.3:p.Tyr158His
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10047T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.616T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.346T>C
  hgvsp: ENSP00000386802.1:p.Tyr116His
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10047T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*403T>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr158His
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-197781151-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781151
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781151
    reference: chr 2
allele count: 1
allele frequency: 8.393063971933595e-6
allele num: 119146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*399A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10043A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.612A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.468A>G
  hgvsp: ENST00000409475.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.468A>G
  hgvsp: ENST00000354764.4:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.342A>G
  hgvsp: ENST00000409188.1:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10043A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys156Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

2-197781175-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781175
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781175
    reference: chr 2
allele count: 3
allele frequency: 2.486737400530504e-5
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.444T>C
  hgvsp: ENST00000409475.1:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.318T>C
  hgvsp: ENST00000409188.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*375T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.444T>C
  hgvsp: ENST00000354764.4:c.444T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10019T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.588T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10019T>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His148His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-197781178-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781178
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781178
    reference: chr 2
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.441A>G
  hgvsp: ENST00000409475.1:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.441A>G
  hgvsp: ENST00000354764.4:c.441A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.585A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10016A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10016A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.315A>G
  hgvsp: ENST00000409188.1:c.315A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*372A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46941
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val147Val
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-197781180-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781180
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781180
    reference: chr 2
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+10014G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+10014G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.439G>T
  hgvsp: ENSP00000387028.1:p.Val147Leu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*370G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.583G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.313G>T
  hgvsp: ENSP00000386802.1:p.Val105Leu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.439G>T
  hgvsp: ENSP00000346809.3:p.Val147Leu
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21510
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val147Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-197781203-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781203
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781203
    reference: chr 2
allele count: 3
allele frequency: 2.479789713832267e-5
allele num: 120978
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.416G>A
  hgvsp: ENSP00000346809.3:p.Ser139Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*347G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.290G>A
  hgvsp: ENSP00000386802.1:p.Ser97Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.560G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.416G>A
  hgvsp: ENSP00000387028.1:p.Ser139Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9991G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9991G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser139Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

2-197781219-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781219
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781219
    reference: chr 2
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.400G>A
  hgvsp: ENSP00000387028.1:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.400G>A
  hgvsp: ENSP00000346809.3:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*331G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.544G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9975G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.274G>A
  hgvsp: ENSP00000386802.1:p.Ala92Thr
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9975G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala134Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

2-197781222-CCAGTTCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781222
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781214
    reference: chr 2
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.389_396delAAGAACTG
  hgvsp: ENSP00000387028.1:p.Glu130GlyfsTer17
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.263_270delAAGAACTG
  hgvsp: ENSP00000386802.1:p.Glu88GlyfsTer17
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.389_396delAAGAACTG
  hgvsp: ENSP00000346809.3:p.Glu130GlyfsTer17
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.533_540delAAGAACTG
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47116
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu130GlyfsTer17
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: CCAGTTCTT
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

2-197781233-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781233
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781233
    reference: chr 2
allele count: 11
allele frequency: 9.093764984044576e-5
allele num: 120962
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9961A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9961A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.260A>G
  hgvsp: ENSP00000386802.1:p.Asn87Ser
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*317A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.386A>G
  hgvsp: ENSP00000387028.1:p.Asn129Ser
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.530A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.386A>G
  hgvsp: ENSP00000346809.3:p.Asn129Ser
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn129Ser
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

2-197781247-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781247
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781247
    reference: chr 2
allele count: 1
allele frequency: 8.272530236098013e-6
allele num: 120882
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9947T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.516T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.246T>C
  hgvsp: ENST00000409188.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.372T>C
  hgvsp: ENST00000354764.4:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.372T>C
  hgvsp: ENST00000409475.1:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*303T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9947T>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe124Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

2-197781253-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781253
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781253
    reference: chr 2
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.510C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*297C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.366C>G
  hgvsp: ENSP00000346809.3:p.Asp122Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.240C>G
  hgvsp: ENSP00000386802.1:p.Asp80Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9941C>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.366C>G
  hgvsp: ENSP00000387028.1:p.Asp122Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9941C>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27636
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp122Glu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-197781253-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781253
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781253
    reference: chr 2
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9941C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*297C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.510C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.366C>A
  hgvsp: ENSP00000346809.3:p.Asp122Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.366C>A
  hgvsp: ENSP00000387028.1:p.Asp122Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9941C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.240C>A
  hgvsp: ENSP00000386802.1:p.Asp80Glu
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp122Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-197781261-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781261
    reference: chr 2
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.358C>A
  hgvsp: ENSP00000346809.3:p.His120Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.232C>A
  hgvsp: ENSP00000386802.1:p.His78Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.502C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.358C>A
  hgvsp: ENSP00000387028.1:p.His120Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9933C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9933C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*289C>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46738
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His120Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-197781264-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781264
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781264
    reference: chr 2
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9930T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9930T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.229T>A
  hgvsp: ENSP00000386802.1:p.Tyr77Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.499T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*286T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.355T>A
  hgvsp: ENSP00000387028.1:p.Tyr119Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.355T>A
  hgvsp: ENSP00000346809.3:p.Tyr119Asn
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr119Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-197781265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781265
    reference: chr 2
allele count: 2
allele frequency: 1.658154805332626e-5
allele num: 120616
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.354G>A
  hgvsp: ENST00000354764.4:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.354G>A
  hgvsp: ENST00000409475.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9929G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.498G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.228G>A
  hgvsp: ENST00000409188.1:c.228G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9929G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*285G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27618
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7043
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys118Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-197781267-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781267
    reference: chr 2
allele count: 1
allele frequency: 8.295037908323241e-6
allele num: 120554
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.496A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9927A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*283A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.226A>G
  hgvsp: ENSP00000386802.1:p.Lys76Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9927A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.352A>G
  hgvsp: ENSP00000387028.1:p.Lys118Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.352A>G
  hgvsp: ENSP00000346809.3:p.Lys118Glu
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2682
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys118Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-197781273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781273
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781273
    reference: chr 2
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9921G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.346G>A
  hgvsp: ENSP00000346809.3:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*277G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.346G>A
  hgvsp: ENSP00000387028.1:p.Asp116Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9921G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.220G>A
  hgvsp: ENSP00000386802.1:p.Asp74Asn
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.490G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp116Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-197781275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781275
    reference: chr 2
allele count: 6
allele frequency: 4.988775255674732e-5
allele num: 120270
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.344T>C
  hgvsp: ENSP00000346809.3:p.Ile115Thr
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9919T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*275T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.344T>C
  hgvsp: ENSP00000387028.1:p.Ile115Thr
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.488T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9919T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.218T>C
  hgvsp: ENSP00000386802.1:p.Ile73Thr
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile115Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

2-197781288-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781288
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781288
    reference: chr 2
allele count: 84
allele frequency: 7.031406951048014e-4
allele num: 119464
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9906A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.205A>G
  hgvsp: ENSP00000386802.1:p.Lys69Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*262A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.475A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.331A>G
  hgvsp: ENSP00000346809.3:p.Lys111Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.331A>G
  hgvsp: ENSP00000387028.1:p.Lys111Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9906A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 27290
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20267
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys111Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-197781300-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781300
    reference: chr 2
allele count: 25
allele frequency: 2.13027028869423e-4
allele num: 117356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.463A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.193A>C
  hgvsp: ENSP00000386802.1:p.Ile65Leu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9894A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.319A>C
  hgvsp: ENSP00000346809.3:p.Ile107Leu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*250A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9894A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.319A>C
  hgvsp: ENSP00000387028.1:p.Ile107Leu
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 4
hgvs: p.Ile107Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

2-197781309-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781309
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781309
    reference: chr 2
allele count: 30
allele frequency: 2.630748184783753e-4
allele num: 114036
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.310A>G
  hgvsp: ENSP00000346809.3:p.Ile104Val
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.184A>G
  hgvsp: ENSP00000386802.1:p.Ile62Val
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*241A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.454A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9885A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9885A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.310A>G
  hgvsp: ENSP00000387028.1:p.Ile104Val
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16447
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25028
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile104Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-197781316-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781316
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781316
    reference: chr 2
allele count: 1
allele frequency: 8.978917501705995e-6
allele num: 111372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.303T>G
  hgvsp: ENST00000409475.1:c.303T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9878T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9878T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*234T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.447T>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.177T>G
  hgvsp: ENST00000409188.1:c.177T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.303T>G
  hgvsp: ENST00000354764.4:c.303T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22991
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
hgvs: c.303T>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

2-197781333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781333
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781333
    reference: chr 2
allele count: 3
allele frequency: 2.937662795479916e-5
allele num: 102122
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.302-16C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*233-16C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.302-16C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.446-16C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9861C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.176-16C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9861C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3604
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-197781336-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781336
    reference: chr 2
allele count: 1
allele frequency: 9.938579578206683e-6
allele num: 100618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.176-19T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.302-19T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9858T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9858T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.446-19T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.302-19T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*233-19T>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9392
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-197781339-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781339
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781339
    reference: chr 2
allele count: 1
allele frequency: 1.008633906237392e-5
allele num: 99144
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9855A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.176-22A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*233-22A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9855A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.302-22A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.302-22A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.446-22A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22796
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5103
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-197781342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781342
    reference: chr 2
allele count: 1
allele frequency: 1.027369113174982e-5
allele num: 97336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.302-25T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9852T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.176-25T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9852T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.446-25T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.302-25T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*233-25T>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

2-197781344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197781344
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197781344
    reference: chr 2
allele count: 1
allele frequency: 1.051812272545596e-5
allele num: 95074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*233-27T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.176-27T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+9850T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+9850T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.302-27T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.302-27T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.446-27T>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25301
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3291
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9278
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-197784671-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784671
    reference: chr 2
allele count: 1
allele frequency: 8.533005665915763e-6
allele num: 117192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6523A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+50A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+50A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+50A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6523A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+50A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+50A>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20419
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-197784672-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784672
    reference: chr 2
allele count: 1
allele frequency: 8.543211564091173e-6
allele num: 117052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6522G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+49G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+49G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+49G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6522G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+49G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+49G>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

2-197784675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784675
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784675
    reference: chr 2
allele count: 1
allele frequency: 8.533588203167667e-6
allele num: 117184
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+46C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+46C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+46C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+46C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6519C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+46C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6519C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-197784683-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784683
    reference: chr 2
allele count: 1
allele frequency: 8.512666848270226e-6
allele num: 117472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6511A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+38A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+38A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6511A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+38A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+38A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+38A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8092
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-197784685-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784685
    reference: chr 2
allele count: 1
allele frequency: 8.513826454161559e-6
allele num: 117456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+36A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6509A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+36A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+36A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6509A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+36A>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+36A>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8324
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

2-197784688-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784688
    reference: chr 2
allele count: 2
allele frequency: 1.702533369654045e-5
allele num: 117472
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+33A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+33A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+33A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6506A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+33A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6506A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+33A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8324
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-197784694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784694
    reference: chr 2
allele count: 2
allele frequency: 1.69776404475306e-5
allele num: 117802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+27A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+27A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+27A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6500A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+27A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+27A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6500A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8323
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 602
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-197784702-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784702
    reference: chr 2
allele count: 3
allele frequency: 2.531389226407453e-5
allele num: 118512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+19A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+19A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+19A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6492A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6492A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+19A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+19A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
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genotype depth: GenotypeDepth
  all individuals: 1143
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 95
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genotype quality: GenotypeQuality
  all individuals: 2544
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genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-197784704-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784704
    reference: chr 2
allele count: 3
allele frequency: 2.527635481261796e-5
allele num: 118688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6490G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6490G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+17G>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+17G>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8319
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

2-197784704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784704
    reference: chr 2
allele count: 2
allele frequency: 1.685090320841197e-5
allele num: 118688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6490G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+17G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6490G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+17G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-197784708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784708
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784708
    reference: chr 2
allele count: 1
allele frequency: 8.396728634523989e-6
allele num: 119094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6486G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6486G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.175+13G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.301+13G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.445+13G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.301+13G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*232+13G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

2-197784725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784725
    reference: chr 2
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.297G>A
  hgvsp: ENST00000354764.4:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*228G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.171G>A
  hgvsp: ENST00000409188.1:c.171G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.441G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6469G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.297G>A
  hgvsp: ENST00000409475.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6469G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8372
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys99Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-197784727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784727
    reference: chr 2
allele count: 2
allele frequency: 1.658622348277521e-5
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.169A>G
  hgvsp: ENSP00000386802.1:p.Lys57Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.295A>G
  hgvsp: ENSP00000387028.1:p.Lys99Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6467A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.439A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*226A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.295A>G
  hgvsp: ENSP00000346809.3:p.Lys99Glu
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6467A>G
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys99Glu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

2-197784729-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784729
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784729
    reference: chr 2
allele count: 1
allele frequency: 8.287475966319697e-6
allele num: 120664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.437A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6465A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.293A>G
  hgvsp: ENSP00000346809.3:p.Tyr98Cys
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.293A>G
  hgvsp: ENSP00000387028.1:p.Tyr98Cys
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*224A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6465A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.167A>G
  hgvsp: ENSP00000386802.1:p.Tyr56Cys
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr98Cys
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

2-197784738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784738
    reference: chr 2
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6456C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6456C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*215C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.284C>T
  hgvsp: ENSP00000387028.1:p.Ala95Val
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.284C>T
  hgvsp: ENSP00000346809.3:p.Ala95Val
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.158C>T
  hgvsp: ENSP00000386802.1:p.Ala53Val
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.428C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13212
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala95Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-197784740-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784740
    reference: chr 2
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.426T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6454T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6454T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*213T>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.282T>C
  hgvsp: ENST00000409475.1:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.282T>C
  hgvsp: ENST00000354764.4:c.282T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.156T>C
  hgvsp: ENST00000409188.1:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8447
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn94Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-197784744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784744
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784744
    reference: chr 2
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.278G>A
  hgvsp: ENSP00000346809.3:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.422G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*209G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6450G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6450G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.278G>A
  hgvsp: ENSP00000387028.1:p.Gly93Asp
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.152G>A
  hgvsp: ENSP00000386802.1:p.Gly51Asp
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly93Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-197784745-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784745
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784745
    reference: chr 2
allele count: 3
allele frequency: 2.477700693756194e-5
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.151G>C
  hgvsp: ENSP00000386802.1:p.Gly51Arg
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.277G>C
  hgvsp: ENSP00000346809.3:p.Gly93Arg
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.277G>C
  hgvsp: ENSP00000387028.1:p.Gly93Arg
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*208G>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.421G>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6449G>C
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6449G>C
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8318
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gly93Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ

2-197784753-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784753
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784753
    reference: chr 2
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*200T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.143T>A
  hgvsp: ENSP00000386802.1:p.Phe48Tyr
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6441T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.413T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6441T>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.269T>A
  hgvsp: ENSP00000346809.3:p.Phe90Tyr
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.269T>A
  hgvsp: ENSP00000387028.1:p.Phe90Tyr
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe90Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

2-197784770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784770
    reference: chr 2
allele count: 5
allele frequency: 4.124391652231296e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6424G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.252G>A
  hgvsp: ENST00000409475.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.396G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.126G>A
  hgvsp: ENST00000409188.1:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.252G>A
  hgvsp: ENST00000354764.4:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*183G>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6424G>A
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr84Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-197784771-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784771
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784771
    reference: chr 2
allele count: 9
allele frequency: 7.423415100875964e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*182C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6423C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6423C>T
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.125C>T
  hgvsp: ENSP00000386802.1:p.Thr42Met
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.251C>T
  hgvsp: ENSP00000387028.1:p.Thr84Met
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.251C>T
  hgvsp: ENSP00000346809.3:p.Thr84Met
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.395C>T
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr84Met
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

2-197784779-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784779
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784779
    reference: chr 2
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.243C>A
  hgvsp: ENST00000354764.4:c.243C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6415C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.387C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.117C>A
  hgvsp: ENST00000409188.1:c.117C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*174C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6415C>A
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.243C>A
  hgvsp: ENST00000409475.1:c.243C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33150
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu81Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

2-197784791-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 197784791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 197784791
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000387028
  ensembl transcript: ENST00000409475
  gene symbol: PGAP1
  hgvsc: ENST00000409475.1:c.231A>G
  hgvsp: ENST00000409475.1:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000485830
  gene symbol: PGAP1
  hgvsc: ENST00000485830.1:n.375A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000415405
  ensembl transcript: ENST00000423035
  gene symbol: PGAP1
  hgvsc: ENST00000423035.1:c.*162A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl transcript: ENST00000470179
  gene symbol: PGAP1
  hgvsc: ENST00000470179.1:n.271+6403A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000346809
  ensembl transcript: ENST00000354764
  gene symbol: PGAP1
  hgvsc: ENST00000354764.4:c.231A>G
  hgvsp: ENST00000354764.4:c.231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000363870
  ensembl transcript: ENST00000374738
  gene symbol: PGAP1
  hgvsc: ENST00000374738.3:c.147+6403A>G
  variant of: http://identifiers.org/hgnc/25712
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197121
  ensembl protein: ENSP00000386802
  ensembl transcript: ENST00000409188
  gene symbol: PGAP1
  hgvsc: ENST00000409188.1:c.105A>G
  hgvsp: ENST00000409188.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25712
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11501
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu77Glu
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 9667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
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: 8638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.809e1

FS
type: SiteQuality
SIO_000300: 2.675e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.14e-1

DP
type: SiteQuality
SIO_000300: 2.008915e6

VQSLOD
type: SiteQuality
SIO_000300: -8.461e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.93698347107438e-4
allele num: 15488
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.422e0

QD
type: SiteQuality
SIO_000300: 1.168e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

DP
type: SiteQuality
SIO_000300: 2.000668e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.102e0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2664
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6005
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9562
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.456611570247934e-5
allele num: 15488
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 3.422e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.102e0

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 2.000668e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 1563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6009
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 692
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 25
allele frequency: 1.625487646293888e-3
allele num: 15380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.425e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 4.475e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.989605e6

QD
type: SiteQuality
SIO_000300: 1.357e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.569438969911969e-5
allele num: 15222
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65880
num of homozygotes: 0

East Asian
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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: 11420
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.263e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

DP
type: SiteQuality
SIO_000300: 1.96981e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
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SIO_000300: 4.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.079951360389117e-5
allele num: 65790
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 1.949055e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

QD
type: SiteQuality
SIO_000300: 1.511e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.01e-1

FS
type: SiteQuality
SIO_000300: 6.767e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.041732570872369e-5
allele num: 65752
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15090
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.942081e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.056e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

QD
type: SiteQuality
SIO_000300: 8.52e0

FS
type: SiteQuality
SIO_000300: 5.734e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5998
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variant carriers: 45

GenotypeQuality
all individuals: 2632
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 44
allele frequency: 4.428341384863124e-3
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.442e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 1.934722e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

GenotypeQuality
all individuals: 102
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8940
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GenotypeQuality
all individuals: 23925
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522255373561469e-5
allele num: 65692
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.472e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 1.924541e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

QD
type: SiteQuality
SIO_000300: 6.43e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11808
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.727e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

DP
type: SiteQuality
SIO_000300: 1.569086e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545117428924598e-5
allele num: 64720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.57768e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.87e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545117428924598e-5
allele num: 64720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
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Latino
type: Population
allele count: 0
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allele num: 11314
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11796
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 4
allele frequency: 3.331667499583542e-4
allele num: 12006
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African
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allele count: 73
allele frequency: 7.14145959694776e-3
allele num: 10222
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
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Other
type: Population
allele count: 1
allele frequency: 1.187648456057007e-3
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.76678445229682e-4
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542020046260601e-5
allele num: 64850
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.408e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

QD
type: SiteQuality
SIO_000300: 1.408e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.591782e6

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41091
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.330556481172943e-5
allele num: 12004
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.69e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.92e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

DP
type: SiteQuality
SIO_000300: 1.592992e6

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
all individuals: 68
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64866
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.932551319648094e-4
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.330556481172943e-5
allele num: 12004
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.92e-2

DP
type: SiteQuality
SIO_000300: 1.592992e6

VQSLOD
type: SiteQuality
SIO_000300: 9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

FS
type: SiteQuality
SIO_000300: 1.263e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.88e0

QD
type: SiteQuality
SIO_000300: 1.69e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2440
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530221882172915e-5
allele num: 65350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.447e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.284e1

DP
type: SiteQuality
SIO_000300: 1.620437e6

GenotypeQuality
all individuals: 2695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528444349341241e-5
allele num: 65426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.303e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.49e-1

DP
type: SiteQuality
SIO_000300: 1.621592e6

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.248e0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43632
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 4.064e0

DP
type: SiteQuality
SIO_000300: 1.623727e6

QD
type: SiteQuality
SIO_000300: 1.234e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.642e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.44e0

GenotypeQuality
all individuals: 6434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13498
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.97e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

DP
type: SiteQuality
SIO_000300: 1.62632e6

GenotypeQuality
all individuals: 385
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2692
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44139
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522950869604947e-5
allele num: 65662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 2.741e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.442e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.382e0

DP
type: SiteQuality
SIO_000300: 1.632243e6

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 45109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1297
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variant carriers: 0

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

GenotypeQuality
all individuals: 6512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.776904310111141e-5
allele num: 14756
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515978412467406e-5
allele num: 65964
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 1.004e0

VQSLOD
type: SiteQuality
SIO_000300: 8.090000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e0

DP
type: SiteQuality
SIO_000300: 1.646344e6

QD
type: SiteQuality
SIO_000300: 1.489e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 1295
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6519
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 45148
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2691
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515289268721399e-5
allele num: 65994
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.744e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

VQSLOD
type: SiteQuality
SIO_000300: -1.111e0

FS
type: SiteQuality
SIO_000300: 7.072e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.647554e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.137e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15136
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

QD
type: SiteQuality
SIO_000300: 7.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 1.543e0

DP
type: SiteQuality
SIO_000300: 1.652294e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.513857542655954e-5
allele num: 66462
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 3.417e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.009e0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.67056e6

QD
type: SiteQuality
SIO_000300: 1.038e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.129704548240775e-5
allele num: 16314
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

DP
type: SiteQuality
SIO_000300: 1.671676e6

FS
type: SiteQuality
SIO_000300: 9.334e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.771e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.915e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.564e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 275
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.120700208103807e-5
allele num: 16338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66484
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.324e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.704e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

QD
type: SiteQuality
SIO_000300: 1.192e1

MQRankSum
type: SiteQuality
SIO_000300: -1.65e-1

DP
type: SiteQuality
SIO_000300: 1.672214e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 6623
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.069434328720563e-5
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.059e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.695e0

FS
type: SiteQuality
SIO_000300: 1.851e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.674506e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.39e1

DP
type: SiteQuality
SIO_000300: 1.674641e6

FS
type: SiteQuality
SIO_000300: 9.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.757e0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
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: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.674626e6

FS
type: SiteQuality
SIO_000300: 1.3832e1

MQRankSum
type: SiteQuality
SIO_000300: -1.826e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.47e0

MQ
type: SiteQuality
SIO_000300: 5.703e1

QD
type: SiteQuality
SIO_000300: 2.74e0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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: 5
allele frequency: 3.035454103933948e-4
allele num: 16472
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 1.751313485113835e-4
allele num: 11420
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.00943481265587e-5
allele num: 66562
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.674882e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.74e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

FS
type: SiteQuality
SIO_000300: 1.808e0

QD
type: SiteQuality
SIO_000300: 1.519e1

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.06e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.529e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.776e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1876e1

QD
type: SiteQuality
SIO_000300: 1.473e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.673456e6

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 4.352e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

DP
type: SiteQuality
SIO_000300: 1.672501e6

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

GenotypeQuality
all individuals: 8
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504257047444267e-5
allele num: 66478
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.672501e6

FS
type: SiteQuality
SIO_000300: 4.352e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.408e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

GenotypeQuality
all individuals: 1311
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1249
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 2.736e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

DP
type: SiteQuality
SIO_000300: 1.670982e6

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.126e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.262e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

DP
type: SiteQuality
SIO_000300: 1.669885e6

GenotypeQuality
all individuals: 1302
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2683
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506387081224391e-5
allele num: 66384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
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: 16408
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.261e0

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.988e0

DP
type: SiteQuality
SIO_000300: 1.669875e6

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 583
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GenotypeQuality
all individuals: 45
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GenotypeQuality
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GenotypeQuality
all individuals: 73
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GenotypeQuality
all individuals: 1300
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GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.793527963418924e-5
allele num: 11372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

DP
type: SiteQuality
SIO_000300: 1.668607e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.289e0

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

FS
type: SiteQuality
SIO_000300: 7.86e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1286
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GenotypeQuality
all individuals: 2680
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.83e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.045e0

DP
type: SiteQuality
SIO_000300: 1.666639e6

FS
type: SiteQuality
SIO_000300: 9.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

VQSLOD
type: SiteQuality
SIO_000300: -2.753e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.912e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.681433304699963e-4
allele num: 16298
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.664808e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

FS
type: SiteQuality
SIO_000300: 2.587e0

QD
type: SiteQuality
SIO_000300: 1.411e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 84

GenotypeQuality
all individuals: 1238
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GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 7.958967102935974e-4
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 71
allele frequency: 1.078961765242235e-3
allele num: 65804
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.917152858809801e-4
allele num: 10284
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 1.652617e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

FS
type: SiteQuality
SIO_000300: 6.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.464e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 1034
bin: 7.75e1
variant carriers: 1

Latino
type: Population
allele count: 3
allele frequency: 2.686246418338109e-4
allele num: 11168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.632489190858555e-4
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.945551390806865e-4
allele num: 10138
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.166444863978212e-4
allele num: 64622
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.399e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.265e1

DP
type: SiteQuality
SIO_000300: 1.624749e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 6.8907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.75e1
variant carriers: 29

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.298815437523882e-4
allele num: 62808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14746
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.751283932501834e-4
allele num: 10904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.56e0

DP
type: SiteQuality
SIO_000300: 1.546032e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

FS
type: SiteQuality
SIO_000300: 1.806e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10654
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.478866e6

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.371365880416895e-4
allele num: 7292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.257328990228013e-4
allele num: 6140
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.06e0

DP
type: SiteQuality
SIO_000300: 1.219903e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.325e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

FS
type: SiteQuality
SIO_000300: 1.698e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.479e0

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 212
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.79772049041815e-5
allele num: 55626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.191e-1

DP
type: SiteQuality
SIO_000300: 1.168489e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 5.593e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.72e0

MQRankSum
type: SiteQuality
SIO_000300: -8.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.824351443061992e-5
allele num: 54814
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7006
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9066
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.935e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.5e0

DP
type: SiteQuality
SIO_000300: 1.121851e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.855149896111606e-5
allele num: 53904
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8948
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.878e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.676e1

DP
type: SiteQuality
SIO_000300: 1.071894e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.898397752297061e-5
allele num: 52676
num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 9054
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 6666
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South Asian
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num of homozygotes: 0

MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.026479e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14344
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525413387027885e-5
allele num: 65556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526251526251526e-5
allele num: 65520
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.893226e6

MQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 6.34e0

FS
type: SiteQuality
SIO_000300: 6.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.903e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 6.102e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.501e1

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

DP
type: SiteQuality
SIO_000300: 1.89932e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65644
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14494
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 1.013993104846887e-4
allele num: 9862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 1.901415e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.74e-1

FS
type: SiteQuality
SIO_000300: 1.193e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -6.237e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

QD
type: SiteQuality
SIO_000300: 1.617e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.37854976564654e-4
allele num: 14508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.905582e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 1.309e1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1026
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variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.326122354035822e-4
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.036e1

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

DP
type: SiteQuality
SIO_000300: 1.915208e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 8.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 8321
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.552490212146044e-5
allele num: 65898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 1.179e0

QD
type: SiteQuality
SIO_000300: 1.506e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.929477e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.549728532864206e-5
allele num: 65938
num of homozygotes: 0

East Asian
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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: 15246
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 2.625e0

DP
type: SiteQuality
SIO_000300: 1.933759e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.968e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

East Asian
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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: 15246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033152355242804e-5
allele num: 65938
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 2.625e0

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.049e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.079e0

DP
type: SiteQuality
SIO_000300: 1.933759e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.99e0

FS
type: SiteQuality
SIO_000300: 5.643e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.23e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.940356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
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: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

QD
type: SiteQuality
SIO_000300: 1.126e1

FS
type: SiteQuality
SIO_000300: 7.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.305e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.959442e6

MQRankSum
type: SiteQuality
SIO_000300: -1.047e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 32622
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.744287458573173e-4
allele num: 11466
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

FS
type: SiteQuality
SIO_000300: 5.052e0

MQRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

VQSLOD
type: SiteQuality
SIO_000300: 6.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.104e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.960447e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
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: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

DP
type: SiteQuality
SIO_000300: 1.961453e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: -9.379999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.506e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 52
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.674e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.483e1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.466e0

DP
type: SiteQuality
SIO_000300: 1.964607e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 16
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
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: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.965748e6

VQSLOD
type: SiteQuality
SIO_000300: -7.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.309e0

MQRankSum
type: SiteQuality
SIO_000300: -1.065e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

FS
type: SiteQuality
SIO_000300: 4.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 169
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.966476e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 9.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

VQSLOD
type: SiteQuality
SIO_000300: -9.641999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.859e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 32996
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

DP
type: SiteQuality
SIO_000300: 1.966832e6

QD
type: SiteQuality
SIO_000300: 1.345e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.636e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 6.456e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.489999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.967578e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.692e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.888503755054881e-4
allele num: 10386
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: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

Other
type: Population
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allele num: 906
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.968902e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
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allele num: 11492
num of homozygotes: 0

Other
type: Population
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South Asian
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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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African
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allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049601151562406e-4
allele num: 66692
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 1.099e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.061e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.968623e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.141e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2