2-242065592-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065591
    reference: chr 2
allele count: 1
allele frequency: 8.568833439015613e-6
allele num: 116702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+18delT
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+18delT
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+18delT
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+18delT
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+18delT
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+18delT
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+18delT
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: TA
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

2-242065593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065593
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065593
    reference: chr 2
allele count: 5
allele frequency: 4.279063398603313e-5
allele num: 116848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+18T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+18T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+18T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+18T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+18T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+18T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+18T>C
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7123
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

2-242065594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065594
    reference: chr 2
allele count: 637
allele frequency: 5.444909821352252e-3
allele num: 116990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+17A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+17A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+17A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+17A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+17A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+17A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+17A>G
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25889
  bin: 2.25e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 3.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 2.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 4
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-242065594-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065594
    reference: chr 2
allele count: 1
allele frequency: 8.547739123001965e-6
allele num: 116990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+17A>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+17A>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+17A>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+17A>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+17A>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+17A>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+17A>C
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7335
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

2-242065596-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065596
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065596
    reference: chr 2
allele count: 1
allele frequency: 8.528930131004366e-6
allele num: 117248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+15C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+15C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+15C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+15C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+15C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+15C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+15C>T
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7356
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-242065596-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065596
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065596
    reference: chr 2
allele count: 1
allele frequency: 8.528930131004366e-6
allele num: 117248
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+15C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+15C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+15C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+15C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+15C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+15C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+15C>G
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7356
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-242065598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065598
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065598
    reference: chr 2
allele count: 5
allele frequency: 4.257348182963796e-5
allele num: 117444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+13C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+13C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+13C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+13C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+13C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+13C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+13C>T
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26055
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13977
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4478
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-242065601-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065601
    reference: chr 2
allele count: 23203
allele frequency: 1.959812152642871e-1
allele num: 118394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+10G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+10G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+10G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+10G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+10G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+10G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+10G>A
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.75e1
  variant carriers: 275
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 210
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 3.75e1
  variant carriers: 2941
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.25e1
  variant carriers: 1402
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 4.75e1
  variant carriers: 1960
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.25e1
  variant carriers: 336
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 1.75e1
  variant carriers: 676
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17932
  bin: 2.25e1
  variant carriers: 1305
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 2.75e1
  variant carriers: 2025
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 339
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.25e1
  variant carriers: 2793
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 9.75e1
  variant carriers: 1290
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.75e1
  variant carriers: 1014
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 4.25e1
  variant carriers: 2640
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 6.25e1
  variant carriers: 667
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 4.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 23576
  bin: 9.75e1
  variant carriers: 19731
genotype quality: GenotypeQuality
  all individuals: 17927
  bin: 6.25e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 31
num of homozygotes: 2492
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

2-242065602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065602
    reference: chr 2
allele count: 9
allele frequency: 7.570150057196689e-5
allele num: 118888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+9C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+9C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+9C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+9C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+9C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+9C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+9C>T
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18066
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

2-242065607-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065607
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065607
    reference: chr 2
allele count: 1
allele frequency: 8.386025527061704e-6
allele num: 119246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2071+4T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3152+4T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2719+4T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2719+4T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2719+4T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2161+4T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2719+4T>C
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
hgvs: c.2719+4T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-242065614-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065614
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065614
    reference: chr 2
allele count: 1
allele frequency: 8.360924383799873e-6
allele num: 119604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2068C>T
  hgvsp: ENST00000539818.1:c.2068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3149C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2716C>T
  hgvsp: ENST00000403638.3:c.2716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2716C>T
  hgvsp: ENST00000234040.4:c.2716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2158C>T
  hgvsp: ENST00000544142.1:c.2158C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2716C>T
  hgvsp: ENST00000358649.4:c.2716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2716C>T
  hgvsp: ENST00000405260.1:c.2716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu906Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

2-242065616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065616
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065616
    reference: chr 2
allele count: 2
allele frequency: 1.67117884956048e-5
allele num: 119676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2714G>A
  hgvsp: ENSP00000384016.1:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2714G>A
  hgvsp: ENSP00000234040.4:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2156G>A
  hgvsp: ENSP00000441374.1:p.Arg719Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2714G>A
  hgvsp: ENSP00000351475.4:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2714G>A
  hgvsp: ENSP00000384438.3:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2066G>A
  hgvsp: ENSP00000443083.1:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3147G>A
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg905Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-242065617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065617
    reference: chr 2
allele count: 7
allele frequency: 5.844242586160833e-5
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2713C>T
  hgvsp: ENSP00000384438.3:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2713C>T
  hgvsp: ENSP00000351475.4:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2713C>T
  hgvsp: ENSP00000234040.4:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2065C>T
  hgvsp: ENSP00000443083.1:p.Arg689Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3146C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2713C>T
  hgvsp: ENSP00000384016.1:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2155C>T
  hgvsp: ENSP00000441374.1:p.Arg719Trp
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14836
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg905Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-242065618-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065618
    reference: chr 2
allele count: 1
allele frequency: 8.344041519950603e-6
allele num: 119846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2064A>G
  hgvsp: ENST00000539818.1:c.2064A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3145A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2712A>G
  hgvsp: ENST00000234040.4:c.2712A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2154A>G
  hgvsp: ENST00000544142.1:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2712A>G
  hgvsp: ENST00000358649.4:c.2712A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2712A>G
  hgvsp: ENST00000405260.1:c.2712A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2712A>G
  hgvsp: ENST00000403638.3:c.2712A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu904Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-242065624-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065624
    reference: chr 2
allele count: 12392
allele frequency: 1.029749044374273e-1
allele num: 120340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2706T>C
  hgvsp: ENST00000405260.1:c.2706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2706T>C
  hgvsp: ENST00000234040.4:c.2706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2706T>C
  hgvsp: ENST00000403638.3:c.2706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2148T>C
  hgvsp: ENST00000544142.1:c.2148T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3139T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2058T>C
  hgvsp: ENST00000539818.1:c.2058T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2706T>C
  hgvsp: ENST00000358649.4:c.2706T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.75e1
  variant carriers: 944
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.75e1
  variant carriers: 672
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 5.25e1
  variant carriers: 1211
genotype depth: GenotypeDepth
  all individuals: 12030
  bin: 2.75e1
  variant carriers: 417
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 809
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 3.25e1
  variant carriers: 611
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 5.75e1
  variant carriers: 1091
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.75e1
  variant carriers: 1267
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.25e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 4.25e1
  variant carriers: 1190
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 9.75e1
  variant carriers: 908
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 476
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.75e1
  variant carriers: 383
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 297
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 8.75e1
  variant carriers: 232
genotype quality: GenotypeQuality
  all individuals: 17619
  bin: 6.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 5767
  bin: 6.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 7.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 9.25e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.25e1
  variant carriers: 9
hgvs: p.Asp902Asp
num of homozygotes: 1205
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-242065632-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065632
    reference: chr 2
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2140C>G
  hgvsp: ENSP00000441374.1:p.His714Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2698C>G
  hgvsp: ENSP00000384438.3:p.His900Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2050C>G
  hgvsp: ENSP00000443083.1:p.His684Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2698C>G
  hgvsp: ENSP00000234040.4:p.His900Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2698C>G
  hgvsp: ENSP00000351475.4:p.His900Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3131C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2698C>G
  hgvsp: ENSP00000384016.1:p.His900Asp
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20005
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His900Asp
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-242065635-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065635
    reference: chr 2
allele count: 663
allele frequency: 5.493594948875594e-3
allele num: 120686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2137T>C
  hgvsp: ENSP00000441374.1:p.Tyr713His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2695T>C
  hgvsp: ENSP00000351475.4:p.Tyr899His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3128T>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2695T>C
  hgvsp: ENSP00000234040.4:p.Tyr899His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2695T>C
  hgvsp: ENSP00000384016.1:p.Tyr899His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2047T>C
  hgvsp: ENSP00000443083.1:p.Tyr683His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2695T>C
  hgvsp: ENSP00000384438.3:p.Tyr899His
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 5.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 3.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 5.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 4.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 12606
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Tyr899His
num of homozygotes: 17
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

2-242065637-CAGCTCCCGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065637
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065628
    reference: chr 2
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsp: ENSP00000384016.1:p.Ser895_Ser897del
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsp: ENSP00000384438.3:p.Ser895_Ser897del
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsp: ENSP00000234040.4:p.Ser895_Ser897del
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsp: ENSP00000351475.4:p.Ser895_Ser897del
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsp: ENSP00000443083.1:p.Ser679_Ser681del
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsp: ENSP00000441374.1:p.Ser709_Ser711del
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3928
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser895_Ser897del
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: CAGCTCCCGG
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-242065640-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065640
    reference: chr 2
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2690G>C
  hgvsp: ENSP00000351475.4:p.Ser897Thr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2690G>C
  hgvsp: ENSP00000384438.3:p.Ser897Thr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3123G>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2042G>C
  hgvsp: ENSP00000443083.1:p.Ser681Thr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2690G>C
  hgvsp: ENSP00000234040.4:p.Ser897Thr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2132G>C
  hgvsp: ENSP00000441374.1:p.Ser711Thr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2690G>C
  hgvsp: ENSP00000384016.1:p.Ser897Thr
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser897Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

2-242065643-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065643
    reference: chr 2
allele count: 6
allele frequency: 4.967545370247715e-5
allele num: 120784
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2687G>A
  hgvsp: ENSP00000351475.4:p.Gly896Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3120G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2687G>A
  hgvsp: ENSP00000384438.3:p.Gly896Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2039G>A
  hgvsp: ENSP00000443083.1:p.Gly680Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2687G>A
  hgvsp: ENSP00000234040.4:p.Gly896Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2129G>A
  hgvsp: ENSP00000441374.1:p.Gly710Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2687G>A
  hgvsp: ENSP00000384016.1:p.Gly896Glu
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3309
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly896Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-242065644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065644
    reference: chr 2
allele count: 2
allele frequency: 1.655848456749238e-5
allele num: 120784
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2686G>A
  hgvsp: ENSP00000351475.4:p.Gly896Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2128G>A
  hgvsp: ENSP00000441374.1:p.Gly710Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3119G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2038G>A
  hgvsp: ENSP00000443083.1:p.Gly680Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2686G>A
  hgvsp: ENSP00000234040.4:p.Gly896Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2686G>A
  hgvsp: ENSP00000384016.1:p.Gly896Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2686G>A
  hgvsp: ENSP00000384438.3:p.Gly896Arg
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20228
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly896Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-242065645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065645
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065645
    reference: chr 2
allele count: 2
allele frequency: 1.65576620581174e-5
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2127C>T
  hgvsp: ENST00000544142.1:c.2127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2685C>T
  hgvsp: ENST00000234040.4:c.2685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3118C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2037C>T
  hgvsp: ENST00000539818.1:c.2037C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2685C>T
  hgvsp: ENST00000405260.1:c.2685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2685C>T
  hgvsp: ENST00000358649.4:c.2685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2685C>T
  hgvsp: ENST00000403638.3:c.2685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.75e1
  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: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser895Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

2-242065649-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065649
    reference: chr 2
allele count: 2
allele frequency: 1.654807214959457e-5
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2681A>T
  hgvsp: ENSP00000234040.4:p.Tyr894Phe
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2681A>T
  hgvsp: ENSP00000384016.1:p.Tyr894Phe
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2123A>T
  hgvsp: ENSP00000441374.1:p.Tyr708Phe
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2681A>T
  hgvsp: ENSP00000351475.4:p.Tyr894Phe
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2033A>T
  hgvsp: ENSP00000443083.1:p.Tyr678Phe
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2681A>T
  hgvsp: ENSP00000384438.3:p.Tyr894Phe
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3114A>T
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20238
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr894Phe
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: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-242065649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065649
    reference: chr 2
allele count: 1
allele frequency: 8.274036074797286e-6
allele num: 120860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3114A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2681A>G
  hgvsp: ENSP00000384438.3:p.Tyr894Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2033A>G
  hgvsp: ENSP00000443083.1:p.Tyr678Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2681A>G
  hgvsp: ENSP00000384016.1:p.Tyr894Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2681A>G
  hgvsp: ENSP00000234040.4:p.Tyr894Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2123A>G
  hgvsp: ENSP00000441374.1:p.Tyr708Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2681A>G
  hgvsp: ENSP00000351475.4:p.Tyr894Cys
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr894Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-242065651-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065651
    reference: chr 2
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2679C>G
  hgvsp: ENST00000403638.3:c.2679C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2679C>G
  hgvsp: ENST00000405260.1:c.2679C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2679C>G
  hgvsp: ENST00000234040.4:c.2679C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2679C>G
  hgvsp: ENST00000358649.4:c.2679C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2031C>G
  hgvsp: ENST00000539818.1:c.2031C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3112C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2121C>G
  hgvsp: ENST00000544142.1:c.2121C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala893Ala
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-242065660-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065660
    reference: chr 2
allele count: 4
allele frequency: 3.306167655761824e-5
allele num: 120986
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2670G>C
  hgvsp: ENSP00000384016.1:p.Gln890His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3103G>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2670G>C
  hgvsp: ENSP00000351475.4:p.Gln890His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2670G>C
  hgvsp: ENSP00000234040.4:p.Gln890His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2112G>C
  hgvsp: ENSP00000441374.1:p.Gln704His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2022G>C
  hgvsp: ENSP00000443083.1:p.Gln674His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2670G>C
  hgvsp: ENSP00000384438.3:p.Gln890His
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3318
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln890His
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-242065663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065663
    reference: chr 2
allele count: 4
allele frequency: 3.305402680681574e-5
allele num: 121014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2667C>T
  hgvsp: ENST00000234040.4:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2667C>T
  hgvsp: ENST00000358649.4:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2667C>T
  hgvsp: ENST00000405260.1:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2667C>T
  hgvsp: ENST00000403638.3:c.2667C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3100C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2019C>T
  hgvsp: ENST00000539818.1:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2109C>T
  hgvsp: ENST00000544142.1:c.2109C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  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: 2321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile889Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-242065663-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065663
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065663
    reference: chr 2
allele count: 4
allele frequency: 3.305402680681574e-5
allele num: 121014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2667C>G
  hgvsp: ENSP00000234040.4:p.Ile889Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2109C>G
  hgvsp: ENSP00000441374.1:p.Ile703Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2667C>G
  hgvsp: ENSP00000384016.1:p.Ile889Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2667C>G
  hgvsp: ENSP00000351475.4:p.Ile889Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3100C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2667C>G
  hgvsp: ENSP00000384438.3:p.Ile889Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2019C>G
  hgvsp: ENSP00000443083.1:p.Ile673Met
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile889Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

2-242065668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065668
    reference: chr 2
allele count: 1
allele frequency: 8.262004692818665e-6
allele num: 121036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2014G>A
  hgvsp: ENSP00000443083.1:p.Glu672Lys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2104G>A
  hgvsp: ENSP00000441374.1:p.Glu702Lys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3095G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2662G>A
  hgvsp: ENSP00000384438.3:p.Glu888Lys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2662G>A
  hgvsp: ENSP00000351475.4:p.Glu888Lys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2662G>A
  hgvsp: ENSP00000384016.1:p.Glu888Lys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2662G>A
  hgvsp: ENSP00000234040.4:p.Glu888Lys
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu888Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-242065670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065670
    reference: chr 2
allele count: 2
allele frequency: 1.652346331791144e-5
allele num: 121040
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2660G>A
  hgvsp: ENSP00000351475.4:p.Arg887Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2660G>A
  hgvsp: ENSP00000234040.4:p.Arg887Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2660G>A
  hgvsp: ENSP00000384438.3:p.Arg887Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3093G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2660G>A
  hgvsp: ENSP00000384016.1:p.Arg887Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2012G>A
  hgvsp: ENSP00000443083.1:p.Arg671Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2102G>A
  hgvsp: ENSP00000441374.1:p.Arg701Gln
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg887Gln
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-242065671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065671
    reference: chr 2
allele count: 3
allele frequency: 2.478069088566189e-5
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2659C>T
  hgvsp: ENSP00000234040.4:p.Arg887Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3092C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2101C>T
  hgvsp: ENSP00000441374.1:p.Arg701Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2659C>T
  hgvsp: ENSP00000384438.3:p.Arg887Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2659C>T
  hgvsp: ENSP00000384016.1:p.Arg887Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2011C>T
  hgvsp: ENSP00000443083.1:p.Arg671Trp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2659C>T
  hgvsp: ENSP00000351475.4:p.Arg887Trp
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6358
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg887Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

2-242065671-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065671
    reference: chr 2
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2101C>G
  hgvsp: ENSP00000441374.1:p.Arg701Gly
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3092C>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2659C>G
  hgvsp: ENSP00000384438.3:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2659C>G
  hgvsp: ENSP00000234040.4:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2659C>G
  hgvsp: ENSP00000351475.4:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2659C>G
  hgvsp: ENSP00000384016.1:p.Arg887Gly
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2011C>G
  hgvsp: ENSP00000443083.1:p.Arg671Gly
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg887Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-242065677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065677
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065677
    reference: chr 2
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2653C>T
  hgvsp: ENST00000234040.4:c.2653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2653C>T
  hgvsp: ENST00000405260.1:c.2653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3086C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2653C>T
  hgvsp: ENST00000358649.4:c.2653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2095C>T
  hgvsp: ENST00000544142.1:c.2095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2653C>T
  hgvsp: ENST00000403638.3:c.2653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2005C>T
  hgvsp: ENST00000539818.1:c.2005C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu885Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-242065679-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065679
    reference: chr 2
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2093G>T
  hgvsp: ENSP00000441374.1:p.Gly698Val
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2651G>T
  hgvsp: ENSP00000234040.4:p.Gly884Val
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2651G>T
  hgvsp: ENSP00000351475.4:p.Gly884Val
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3084G>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2651G>T
  hgvsp: ENSP00000384438.3:p.Gly884Val
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2003G>T
  hgvsp: ENSP00000443083.1:p.Gly668Val
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2651G>T
  hgvsp: ENSP00000384016.1:p.Gly884Val
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6373
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly884Val
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: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-242065679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065679
    reference: chr 2
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3084G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.2003G>A
  hgvsp: ENSP00000443083.1:p.Gly668Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2651G>A
  hgvsp: ENSP00000384016.1:p.Gly884Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2651G>A
  hgvsp: ENSP00000234040.4:p.Gly884Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2651G>A
  hgvsp: ENSP00000384438.3:p.Gly884Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2093G>A
  hgvsp: ENSP00000441374.1:p.Gly698Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2651G>A
  hgvsp: ENSP00000351475.4:p.Gly884Asp
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly884Asp
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-242065686-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065686
    reference: chr 2
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3077G>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2644G>T
  hgvsp: ENSP00000351475.4:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2086G>T
  hgvsp: ENSP00000441374.1:p.Ala696Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2644G>T
  hgvsp: ENSP00000384438.3:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2644G>T
  hgvsp: ENSP00000234040.4:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2644G>T
  hgvsp: ENSP00000384016.1:p.Ala882Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1996G>T
  hgvsp: ENSP00000443083.1:p.Ala666Ser
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala882Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

2-242065688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065688
    reference: chr 2
allele count: 43
allele frequency: 3.548323210984949e-4
allele num: 121184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2642G>A
  hgvsp: ENSP00000234040.4:p.Gly881Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1994G>A
  hgvsp: ENSP00000443083.1:p.Gly665Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2642G>A
  hgvsp: ENSP00000351475.4:p.Gly881Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2642G>A
  hgvsp: ENSP00000384438.3:p.Gly881Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2642G>A
  hgvsp: ENSP00000384016.1:p.Gly881Glu
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3075G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2084G>A
  hgvsp: ENSP00000441374.1:p.Gly695Glu
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly881Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-242065690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065690
    reference: chr 2
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2640C>T
  hgvsp: ENST00000358649.4:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2640C>T
  hgvsp: ENST00000403638.3:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2640C>T
  hgvsp: ENST00000234040.4:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2640C>T
  hgvsp: ENST00000405260.1:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2082C>T
  hgvsp: ENST00000544142.1:c.2082C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3073C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1992C>T
  hgvsp: ENST00000539818.1:c.1992C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg880Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-242065691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065691
    reference: chr 2
allele count: 5
allele frequency: 4.124936063491016e-5
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3072G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2639G>A
  hgvsp: ENSP00000384016.1:p.Arg880His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2639G>A
  hgvsp: ENSP00000234040.4:p.Arg880His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2081G>A
  hgvsp: ENSP00000441374.1:p.Arg694His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2639G>A
  hgvsp: ENSP00000384438.3:p.Arg880His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2639G>A
  hgvsp: ENSP00000351475.4:p.Arg880His
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1991G>A
  hgvsp: ENSP00000443083.1:p.Arg664His
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg880His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

2-242065692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065692
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065692
    reference: chr 2
allele count: 3
allele frequency: 2.474879968321537e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3071C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2638C>T
  hgvsp: ENSP00000351475.4:p.Arg880Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2638C>T
  hgvsp: ENSP00000384438.3:p.Arg880Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2638C>T
  hgvsp: ENSP00000384016.1:p.Arg880Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1990C>T
  hgvsp: ENSP00000443083.1:p.Arg664Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2080C>T
  hgvsp: ENSP00000441374.1:p.Arg694Cys
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2638C>T
  hgvsp: ENSP00000234040.4:p.Arg880Cys
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3571
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg880Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

2-242065698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065698
    reference: chr 2
allele count: 17
allele frequency: 1.402038729258074e-4
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2632G>A
  hgvsp: ENSP00000384438.3:p.Val878Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2632G>A
  hgvsp: ENSP00000384016.1:p.Val878Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2632G>A
  hgvsp: ENSP00000234040.4:p.Val878Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1984G>A
  hgvsp: ENSP00000443083.1:p.Val662Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3065G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2632G>A
  hgvsp: ENSP00000351475.4:p.Val878Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2074G>A
  hgvsp: ENSP00000441374.1:p.Val692Met
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val878Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-242065699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065699
    reference: chr 2
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3064C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2073C>T
  hgvsp: ENST00000544142.1:c.2073C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2631C>T
  hgvsp: ENST00000403638.3:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2631C>T
  hgvsp: ENST00000234040.4:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2631C>T
  hgvsp: ENST00000358649.4:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1983C>T
  hgvsp: ENST00000539818.1:c.1983C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2631C>T
  hgvsp: ENST00000405260.1:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile877Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

2-242065702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065702
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065702
    reference: chr 2
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2628G>A
  hgvsp: ENST00000358649.4:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1980G>A
  hgvsp: ENST00000539818.1:c.1980G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3061G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2070G>A
  hgvsp: ENST00000544142.1:c.2070G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2628G>A
  hgvsp: ENST00000405260.1:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2628G>A
  hgvsp: ENST00000403638.3:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2628G>A
  hgvsp: ENST00000234040.4:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val876Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-242065704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065704
    reference: chr 2
allele count: 5
allele frequency: 4.122691292875989e-5
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2626G>A
  hgvsp: ENSP00000234040.4:p.Val876Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2626G>A
  hgvsp: ENSP00000351475.4:p.Val876Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2626G>A
  hgvsp: ENSP00000384438.3:p.Val876Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2068G>A
  hgvsp: ENSP00000441374.1:p.Val690Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3059G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1978G>A
  hgvsp: ENSP00000443083.1:p.Val660Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2626G>A
  hgvsp: ENSP00000384016.1:p.Val876Met
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19151
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val876Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-242065704-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065704
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065703
    reference: chr 2
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2067delC
  hgvsp: ENSP00000441374.1:p.Val690Ter
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2625delC
  hgvsp: ENSP00000351475.4:p.Val876Ter
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1977delC
  hgvsp: ENSP00000443083.1:p.Val660Ter
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3058delC
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2625delC
  hgvsp: ENSP00000384016.1:p.Val876Ter
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2625delC
  hgvsp: ENSP00000384438.3:p.Val876Ter
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2625delC
  hgvsp: ENSP00000234040.4:p.Val876Ter
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val876Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: CG
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

2-242065705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065705
    reference: chr 2
allele count: 5
allele frequency: 4.122691292875989e-5
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2625C>T
  hgvsp: ENST00000358649.4:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2625C>T
  hgvsp: ENST00000403638.3:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2625C>T
  hgvsp: ENST00000405260.1:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2067C>T
  hgvsp: ENST00000544142.1:c.2067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2625C>T
  hgvsp: ENST00000234040.4:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3058C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1977C>T
  hgvsp: ENST00000539818.1:c.1977C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20284
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro875Pro
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-242065709-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065709
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065709
    reference: chr 2
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2063C>T
  hgvsp: ENSP00000441374.1:p.Thr688Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2621C>T
  hgvsp: ENSP00000351475.4:p.Thr874Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2621C>T
  hgvsp: ENSP00000384438.3:p.Thr874Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1973C>T
  hgvsp: ENSP00000443083.1:p.Thr658Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2621C>T
  hgvsp: ENSP00000384016.1:p.Thr874Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3054C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2621C>T
  hgvsp: ENSP00000234040.4:p.Thr874Met
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr874Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-242065710-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065710
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065710
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2620A>T
  hgvsp: ENSP00000384438.3:p.Thr874Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3053A>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1972A>T
  hgvsp: ENSP00000443083.1:p.Thr658Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2620A>T
  hgvsp: ENSP00000234040.4:p.Thr874Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2062A>T
  hgvsp: ENSP00000441374.1:p.Thr688Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2620A>T
  hgvsp: ENSP00000351475.4:p.Thr874Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2620A>T
  hgvsp: ENSP00000384016.1:p.Thr874Ser
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr874Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-242065715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065715
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065715
    reference: chr 2
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3048C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2615C>T
  hgvsp: ENSP00000384438.3:p.Thr872Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2615C>T
  hgvsp: ENSP00000234040.4:p.Thr872Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2615C>T
  hgvsp: ENSP00000351475.4:p.Thr872Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1967C>T
  hgvsp: ENSP00000443083.1:p.Thr656Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2615C>T
  hgvsp: ENSP00000384016.1:p.Thr872Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2057C>T
  hgvsp: ENSP00000441374.1:p.Thr686Ile
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20287
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr872Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-242065716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065716
    reference: chr 2
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3047A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2614A>G
  hgvsp: ENSP00000384438.3:p.Thr872Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1966A>G
  hgvsp: ENSP00000443083.1:p.Thr656Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2056A>G
  hgvsp: ENSP00000441374.1:p.Thr686Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2614A>G
  hgvsp: ENSP00000384016.1:p.Thr872Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2614A>G
  hgvsp: ENSP00000351475.4:p.Thr872Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2614A>G
  hgvsp: ENSP00000234040.4:p.Thr872Ala
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr872Ala
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

2-242065720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065720
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065720
    reference: chr 2
allele count: 12
allele frequency: 9.891033777880352e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2610G>A
  hgvsp: ENST00000358649.4:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2052G>A
  hgvsp: ENST00000544142.1:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3043G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2610G>A
  hgvsp: ENST00000403638.3:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1962G>A
  hgvsp: ENST00000539818.1:c.1962G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2610G>A
  hgvsp: ENST00000405260.1:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2610G>A
  hgvsp: ENST00000234040.4:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20303
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln870Gln
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

2-242065721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065721
    reference: chr 2
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1961A>G
  hgvsp: ENSP00000443083.1:p.Gln654Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2609A>G
  hgvsp: ENSP00000384438.3:p.Gln870Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2609A>G
  hgvsp: ENSP00000384016.1:p.Gln870Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2051A>G
  hgvsp: ENSP00000441374.1:p.Gln684Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3042A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2609A>G
  hgvsp: ENSP00000351475.4:p.Gln870Arg
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2609A>G
  hgvsp: ENSP00000234040.4:p.Gln870Arg
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln870Arg
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

2-242065725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065725
    reference: chr 2
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2605G>A
  hgvsp: ENSP00000384016.1:p.Val869Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3038G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2047G>A
  hgvsp: ENSP00000441374.1:p.Val683Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2605G>A
  hgvsp: ENSP00000234040.4:p.Val869Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2605G>A
  hgvsp: ENSP00000351475.4:p.Val869Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1957G>A
  hgvsp: ENSP00000443083.1:p.Val653Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2605G>A
  hgvsp: ENSP00000384438.3:p.Val869Ile
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val869Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-242065726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065726
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065726
    reference: chr 2
allele count: 4
allele frequency: 3.296848213108268e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2604C>T
  hgvsp: ENST00000358649.4:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3037C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2604C>T
  hgvsp: ENST00000405260.1:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2604C>T
  hgvsp: ENST00000234040.4:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2604C>T
  hgvsp: ENST00000403638.3:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2046C>T
  hgvsp: ENST00000544142.1:c.2046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1956C>T
  hgvsp: ENST00000539818.1:c.1956C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20300
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn868Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/2-242065738-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065738
    reference: chr 2
allele count: 11
allele frequency: 9.065734819014967e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1944G>T
  hgvsp: ENSP00000443083.1:p.Glu648Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2034G>T
  hgvsp: ENSP00000441374.1:p.Glu678Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2592G>T
  hgvsp: ENSP00000384016.1:p.Glu864Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3025G>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2592G>T
  hgvsp: ENSP00000384438.3:p.Glu864Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2592G>T
  hgvsp: ENSP00000234040.4:p.Glu864Asp
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2592G>T
  hgvsp: ENSP00000351475.4:p.Glu864Asp
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu864Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

2-242065744-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065744
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065744
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2028A>C
  hgvsp: ENST00000544142.1:c.2028A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2586A>C
  hgvsp: ENST00000405260.1:c.2586A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2586A>C
  hgvsp: ENST00000403638.3:c.2586A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2586A>C
  hgvsp: ENST00000358649.4:c.2586A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1938A>C
  hgvsp: ENST00000539818.1:c.1938A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3019A>C
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2586A>C
  hgvsp: ENST00000234040.4:c.2586A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala862Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

2-242065750-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065750
    reference: chr 2
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1932A>G
  hgvsp: ENST00000539818.1:c.1932A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3013A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2022A>G
  hgvsp: ENST00000544142.1:c.2022A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2580A>G
  hgvsp: ENST00000234040.4:c.2580A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2580A>G
  hgvsp: ENST00000403638.3:c.2580A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2580A>G
  hgvsp: ENST00000405260.1:c.2580A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2580A>G
  hgvsp: ENST00000358649.4:c.2580A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro860Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-242065750-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065749
    reference: chr 2
allele count: 91
allele frequency: 7.499464323976858e-4
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2021delC
  hgvsp: ENSP00000441374.1:p.Pro674HisfsTer8
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2579delC
  hgvsp: ENSP00000384438.3:p.Pro860HisfsTer8
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2579delC
  hgvsp: ENSP00000234040.4:p.Pro860HisfsTer8
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2579delC
  hgvsp: ENSP00000384016.1:p.Pro860HisfsTer8
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1931delC
  hgvsp: ENSP00000443083.1:p.Pro644HisfsTer8
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2579delC
  hgvsp: ENSP00000351475.4:p.Pro860HisfsTer8
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3012delC
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14761
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5651
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro860HisfsTer8
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS

2-242065754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065754
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065754
    reference: chr 2
allele count: 25
allele frequency: 2.060156571899464e-4
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3009G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2576G>A
  hgvsp: ENSP00000234040.4:p.Cys859Tyr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2576G>A
  hgvsp: ENSP00000384016.1:p.Cys859Tyr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1928G>A
  hgvsp: ENSP00000443083.1:p.Cys643Tyr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2576G>A
  hgvsp: ENSP00000384438.3:p.Cys859Tyr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2576G>A
  hgvsp: ENSP00000351475.4:p.Cys859Tyr
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2018G>A
  hgvsp: ENSP00000441374.1:p.Cys673Tyr
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4525
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19254
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys859Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-242065756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065756
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065756
    reference: chr 2
allele count: 879
allele frequency: 7.243510506798517e-3
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2574G>A
  hgvsp: ENST00000234040.4:c.2574G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3007G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2574G>A
  hgvsp: ENST00000403638.3:c.2574G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2574G>A
  hgvsp: ENST00000358649.4:c.2574G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2016G>A
  hgvsp: ENST00000544142.1:c.2016G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2574G>A
  hgvsp: ENST00000405260.1:c.2574G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1926G>A
  hgvsp: ENST00000539818.1:c.1926G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4418
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 9.75e1
  variant carriers: 796
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19190
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr858Thr
num of homozygotes: 6
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD

2-242065757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065757
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065757
    reference: chr 2
allele count: 3
allele frequency: 2.472147142197904e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3006C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2015C>T
  hgvsp: ENSP00000441374.1:p.Thr672Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1925C>T
  hgvsp: ENSP00000443083.1:p.Thr642Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2573C>T
  hgvsp: ENSP00000351475.4:p.Thr858Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2573C>T
  hgvsp: ENSP00000384016.1:p.Thr858Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2573C>T
  hgvsp: ENSP00000234040.4:p.Thr858Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2573C>T
  hgvsp: ENSP00000384438.3:p.Thr858Met
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr858Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-242065759-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065759
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065759
    reference: chr 2
allele count: 22
allele frequency: 1.812878026270251e-4
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2571C>T
  hgvsp: ENST00000358649.4:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2571C>T
  hgvsp: ENST00000405260.1:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3004C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1923C>T
  hgvsp: ENST00000539818.1:c.1923C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2571C>T
  hgvsp: ENST00000234040.4:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2571C>T
  hgvsp: ENST00000403638.3:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2013C>T
  hgvsp: ENST00000544142.1:c.2013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20497
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp857Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

2-242065761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065761
    reference: chr 2
allele count: 42
allele frequency: 3.46089192128943e-4
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.3002G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2011G>A
  hgvsp: ENSP00000441374.1:p.Asp671Asn
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2569G>A
  hgvsp: ENSP00000351475.4:p.Asp857Asn
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2569G>A
  hgvsp: ENSP00000384016.1:p.Asp857Asn
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2569G>A
  hgvsp: ENSP00000234040.4:p.Asp857Asn
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2569G>A
  hgvsp: ENSP00000384438.3:p.Asp857Asn
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1921G>A
  hgvsp: ENSP00000443083.1:p.Asp641Asn
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp857Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-242065765-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065765
    reference: chr 2
allele count: 30
allele frequency: 2.471943441934048e-4
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2998T>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2565T>G
  hgvsp: ENST00000234040.4:c.2565T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2565T>G
  hgvsp: ENST00000358649.4:c.2565T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1917T>G
  hgvsp: ENST00000539818.1:c.1917T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2565T>G
  hgvsp: ENST00000405260.1:c.2565T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2565T>G
  hgvsp: ENST00000403638.3:c.2565T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2007T>G
  hgvsp: ENST00000544142.1:c.2007T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro855Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-242065770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065770
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065770
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2560G>A
  hgvsp: ENSP00000351475.4:p.Gly854Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2560G>A
  hgvsp: ENSP00000384438.3:p.Gly854Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2560G>A
  hgvsp: ENSP00000384016.1:p.Gly854Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.2002G>A
  hgvsp: ENSP00000441374.1:p.Gly668Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1912G>A
  hgvsp: ENSP00000443083.1:p.Gly638Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2560G>A
  hgvsp: ENSP00000234040.4:p.Gly854Ser
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2993G>A
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19248
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly854Ser
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-242065780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065780
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065780
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1902G>A
  hgvsp: ENST00000539818.1:c.1902G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2550G>A
  hgvsp: ENST00000234040.4:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2550G>A
  hgvsp: ENST00000403638.3:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2550G>A
  hgvsp: ENST00000358649.4:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.1992G>A
  hgvsp: ENST00000544142.1:c.1992G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2550G>A
  hgvsp: ENST00000405260.1:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2983G>A
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20493
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19248
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr850Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

2-242065781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065781
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065781
    reference: chr 2
allele count: 941
allele frequency: 7.753279282842264e-3
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2982C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.1991C>T
  hgvsp: ENSP00000441374.1:p.Thr664Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2549C>T
  hgvsp: ENSP00000351475.4:p.Thr850Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2549C>T
  hgvsp: ENSP00000384438.3:p.Thr850Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2549C>T
  hgvsp: ENSP00000234040.4:p.Thr850Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1901C>T
  hgvsp: ENSP00000443083.1:p.Thr634Met
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2549C>T
  hgvsp: ENSP00000384016.1:p.Thr850Met
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 9.75e1
  variant carriers: 736
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8786
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr850Met
num of homozygotes: 36
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-242065782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065782
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065782
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2548A>G
  hgvsp: ENSP00000351475.4:p.Thr850Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2548A>G
  hgvsp: ENSP00000384438.3:p.Thr850Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.1990A>G
  hgvsp: ENSP00000441374.1:p.Thr664Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1900A>G
  hgvsp: ENSP00000443083.1:p.Thr634Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2548A>G
  hgvsp: ENSP00000384016.1:p.Thr850Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2548A>G
  hgvsp: ENSP00000234040.4:p.Thr850Ala
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2981A>G
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6442
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr850Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-242065791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065791
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065791
    reference: chr 2
allele count: 6
allele frequency: 4.943316635908252e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2539G>A
  hgvsp: ENSP00000234040.4:p.Val847Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1891G>A
  hgvsp: ENSP00000443083.1:p.Val631Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2539G>A
  hgvsp: ENSP00000384016.1:p.Val847Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2539G>A
  hgvsp: ENSP00000384438.3:p.Val847Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2972G>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.1981G>A
  hgvsp: ENSP00000441374.1:p.Val661Ile
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2539G>A
  hgvsp: ENSP00000351475.4:p.Val847Ile
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val847Ile
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: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-242065792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065792
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065792
    reference: chr 2
allele count: 17
allele frequency: 1.400583301751553e-4
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2538C>T
  hgvsp: ENST00000358649.4:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2538C>T
  hgvsp: ENST00000403638.3:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2538C>T
  hgvsp: ENST00000405260.1:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.1980C>T
  hgvsp: ENST00000544142.1:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2538C>T
  hgvsp: ENST00000234040.4:c.2538C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2971C>T
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1890C>T
  hgvsp: ENST00000539818.1:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3290
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19255
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His846His
num of homozygotes: 1
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-242065798-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065798
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065798
    reference: chr 2
allele count: 666
allele frequency: 5.486991052744319e-3
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2965A>G
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.1974A>G
  hgvsp: ENST00000544142.1:c.1974A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2532A>G
  hgvsp: ENST00000403638.3:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2532A>G
  hgvsp: ENST00000234040.4:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1884A>G
  hgvsp: ENST00000539818.1:c.1884A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2532A>G
  hgvsp: ENST00000358649.4:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2532A>G
  hgvsp: ENST00000405260.1:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5477
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14676
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 9.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro844Pro
num of homozygotes: 18
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-242065799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 242065799
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 242065799
    reference: chr 2
allele count: 1405
allele frequency: 1.157502759882025e-2
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384438
  ensembl transcript: ENST00000403638
  gene symbol: PASK
  hgvsc: ENST00000403638.3:c.2531C>A
  hgvsp: ENSP00000384438.3:p.Pro844Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000234040
  ensembl transcript: ENST00000234040
  gene symbol: PASK
  hgvsc: ENST00000234040.4:c.2531C>A
  hgvsp: ENSP00000234040.4:p.Pro844Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000441374
  ensembl transcript: ENST00000544142
  gene symbol: PASK
  hgvsc: ENST00000544142.1:c.1973C>A
  hgvsp: ENSP00000441374.1:p.Pro658Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115687
  ensembl transcript: ENST00000493544
  gene symbol: PASK
  hgvsc: ENST00000493544.1:n.2964C>A
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000384016
  ensembl transcript: ENST00000405260
  gene symbol: PASK
  hgvsc: ENST00000405260.1:c.2531C>A
  hgvsp: ENSP00000384016.1:p.Pro844Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000351475
  ensembl transcript: ENST00000358649
  gene symbol: PASK
  hgvsc: ENST00000358649.4:c.2531C>A
  hgvsp: ENSP00000351475.4:p.Pro844Gln
  variant of: http://identifiers.org/hgnc/17270
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115687
  ensembl protein: ENSP00000443083
  ensembl transcript: ENST00000539818
  gene symbol: PASK
  hgvsc: ENST00000539818.1:c.1883C>A
  hgvsp: ENSP00000443083.1:p.Pro628Gln
  variant of: http://identifiers.org/hgnc/17270
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12920
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5466
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 9.75e1
  variant carriers: 1002
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 47
hgvs: p.Pro844Gln
num of homozygotes: 97
reference allele: G

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25845
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7118
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7346
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557389814670612e-5
allele num: 64210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 6.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

DP
type: SiteQuality
SIO_000300: 1.625656e6

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.220646325153183e-5
allele num: 64302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5948
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.35e1

DP
type: SiteQuality
SIO_000300: 1.629895e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

FS
type: SiteQuality
SIO_000300: 1.262e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25950
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3344
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7335
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7672
bin: 9.75e1
variant carriers: 630

Other
type: Population
allele count: 6
allele frequency: 7.042253521126761e-3
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 37
allele frequency: 6.205971150620597e-3
allele num: 5962
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 486
allele frequency: 7.547990308753184e-3
allele num: 64388
num of homozygotes: 3

African
type: Population
allele count: 69
allele frequency: 7.207019009818258e-3
allele num: 9574
num of homozygotes: 1

Latino
type: Population
allele count: 19
allele frequency: 1.671652296322365e-3
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 20
allele frequency: 1.223391240518718e-3
allele num: 16348
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 2.516e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.641417e6

QD
type: SiteQuality
SIO_000300: 1.254e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3212
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.116956202593589e-5
allele num: 16348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64388
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.254e1

FS
type: SiteQuality
SIO_000300: 2.516e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.641417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

GenotypeQuality
all individuals: 4412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26284
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550387596899225e-5
allele num: 64500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.037e0

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.649306e6

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
all individuals: 673
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.038853106170787e-4
allele num: 9626
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.037e0

QD
type: SiteQuality
SIO_000300: 1.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 1.649306e6

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26251
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3336
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7388
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 616
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64624
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.385964912280702e-4
allele num: 11400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.446e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 1.655451e6

QD
type: SiteQuality
SIO_000300: 1.085e1

FS
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 20

GenotypeQuality
all individuals: 5258
bin: 6.75e1
variant carriers: 117

GenotypeQuality
all individuals: 2399
bin: 7.25e1
variant carriers: 75

GenotypeQuality
all individuals: 1037
bin: 8.75e1
variant carriers: 111

GenotypeQuality
all individuals: 1235
bin: 2.25e1
variant carriers: 26

GenotypeQuality
all individuals: 3096
bin: 7.75e1
variant carriers: 115

GenotypeQuality
all individuals: 1229
bin: 9.25e1
variant carriers: 132

GenotypeQuality
all individuals: 2344
bin: 8.25e1
variant carriers: 133

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 74

GenotypeQuality
all individuals: 103
bin: 1.75e1
variant carriers: 22

European (Non-Finnish)
type: Population
allele count: 14825
allele frequency: 2.276286696965975e-1
allele num: 65128
num of homozygotes: 1667

Latino
type: Population
allele count: 1196
allele frequency: 1.045820216859042e-1
allele num: 11436
num of homozygotes: 64

African
type: Population
allele count: 1414
allele frequency: 1.444330949948927e-1
allele num: 9790
num of homozygotes: 117

South Asian
type: Population
allele count: 3953
allele frequency: 2.40245533001094e-1
allele num: 16454
num of homozygotes: 481

European (Finnish)
type: Population
allele count: 1297
allele frequency: 2.095992243051067e-1
allele num: 6188
num of homozygotes: 132

East Asian
type: Population
allele count: 311
allele frequency: 3.646810506566604e-2
allele num: 8528
num of homozygotes: 4

Other
type: Population
allele count: 207
allele frequency: 2.379310344827586e-1
allele num: 870
num of homozygotes: 27

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.639e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
SIO_000300: 2.033933e6

FS
type: SiteQuality
SIO_000300: 2.376e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 1776
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14792
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 4227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.174873080922381e-5
allele num: 65396
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.045685279187817e-4
allele num: 9850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
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: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

DP
type: SiteQuality
SIO_000300: 1.912328e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e0

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 4295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20815
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.765e1

FS
type: SiteQuality
SIO_000300: 6.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.366e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.919436e6

VQSLOD
type: SiteQuality
SIO_000300: 4.13e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 998
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3585
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6846
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1814
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520588771972508e-5
allele num: 65764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

DP
type: SiteQuality
SIO_000300: 1.928673e6

MQRankSum
type: SiteQuality
SIO_000300: -1.22e0

QD
type: SiteQuality
SIO_000300: 1.266e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 954
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14841
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519895431194334e-5
allele num: 65794
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.746e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.931265e6

FS
type: SiteQuality
SIO_000300: 8.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

QD
type: SiteQuality
SIO_000300: 2.111e1

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4335
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1828
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3595
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6370
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.73460537727667e-4
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.036836830757083e-5
allele num: 65858
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.934911e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

QD
type: SiteQuality
SIO_000300: 1.362e1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

GenotypeQuality
all individuals: 116
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2355
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1852
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3619
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517773123273533e-5
allele num: 65886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.935369e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.962e0

GenotypeQuality
all individuals: 1536
bin: 8.75e1
variant carriers: 27

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 18

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 14

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2951
bin: 8.25e1
variant carriers: 29

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 2846
bin: 7.25e1
variant carriers: 23

GenotypeQuality
all individuals: 145
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 23137
bin: 9.75e1
variant carriers: 10920

European (Non-Finnish)
type: Population
allele count: 4826
allele frequency: 7.302163716144651e-2
allele num: 66090
num of homozygotes: 172

South Asian
type: Population
allele count: 715
allele frequency: 4.332808144467337e-2
allele num: 16502
num of homozygotes: 22

East Asian
type: Population
allele count: 1060
allele frequency: 1.233418664184315e-1
allele num: 8594
num of homozygotes: 65

Latino
type: Population
allele count: 1147
allele frequency: 9.937619130133425e-2
allele num: 11542
num of homozygotes: 62

Other
type: Population
allele count: 81
allele frequency: 9.040178571428571e-2
allele num: 896
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 350
allele frequency: 5.441542288557214e-2
allele num: 6432
num of homozygotes: 8

African
type: Population
allele count: 4213
allele frequency: 4.096654998055231e-1
allele num: 10284
num of homozygotes: 872

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.031e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.446e1

DP
type: SiteQuality
SIO_000300: 2.234756e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.879e0

FS
type: SiteQuality
SIO_000300: 1.329e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 8.25e1
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: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509980974239725e-5
allele num: 66226
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.291e0

FS
type: SiteQuality
SIO_000300: 2.777e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

DP
type: SiteQuality
SIO_000300: 2.156884e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.886e1

QD
type: SiteQuality
SIO_000300: 2.607e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

GenotypeQuality
all individuals: 108
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6245
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20348
bin: 9.75e1
variant carriers: 641

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

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

GenotypeQuality
all individuals: 3903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.54557527465894e-5
allele num: 66264
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

African
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allele count: 630
allele frequency: 6.09284332688588e-2
allele num: 10340
num of homozygotes: 17

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

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

Latino
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allele count: 26
allele frequency: 2.251082251082251e-3
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.170919e6

BaseQRankSum
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SIO_000300: 3.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.456e1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

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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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508841813024323e-5
allele num: 66276
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
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MQ
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SIO_000300: 5.966e1

BaseQRankSum
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SIO_000300: -5.54e-1

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

DP
type: SiteQuality
SIO_000300: 2.169514e6

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 6.944e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.04895484571532e-5
allele num: 66306
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 1.344e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

DP
type: SiteQuality
SIO_000300: 2.17146e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.867e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 58
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.426e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.724e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

FS
type: SiteQuality
SIO_000300: 7.199e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

DP
type: SiteQuality
SIO_000300: 2.171847e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16510
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DP
type: SiteQuality
SIO_000300: 2.172567e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6554
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.014045451805413e-5
allele num: 66356
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.359e0

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

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

European (Non-Finnish)
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allele count: 0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6554
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South Asian
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African
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Other
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East Asian
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
type: SiteQuality
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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allele num: 16510
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Latino
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European (Finnish)
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European (Non-Finnish)
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Other
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East Asian
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BaseQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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South Asian
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African
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Latino
type: Population
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.515760002408406e-5
allele num: 66434
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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MQ
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DP
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FS
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BaseQRankSum
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SIO_000300: -5.082e0

ClippingRankSum
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SIO_000300: 2.32e-1

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

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

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.51426507764536e-5
allele num: 66456
num of homozygotes: 0

Latino
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allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
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South Asian
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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SIO_000300: -5.89e-1

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele num: 16512
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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InbreedingCoeff
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ClippingRankSum
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MQ
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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African
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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FS
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Latino
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allele num: 11568
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European (Non-Finnish)
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allele frequency: 1.504302304591131e-5
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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VQSLOD
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FS
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 2.178352e6

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 4.51222813825467e-5
allele num: 66486
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
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East Asian
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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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European (Finnish)
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Other
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66486
num of homozygotes: 0

South Asian
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FS
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BaseQRankSum
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MQRankSum
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QD
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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East Asian
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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QD
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FS
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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Latino
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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VQSLOD
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FS
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MQRankSum
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004356316659156e-5
allele num: 66570
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

DP
type: SiteQuality
SIO_000300: 2.180454e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.13e-1

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

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

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20285
bin: 9.75e1
variant carriers: 43

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

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 36
allele frequency: 5.40784136998648e-4
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.887947631882942e-4
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.457216940363008e-4
allele num: 11570
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.18409e6

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

FS
type: SiteQuality
SIO_000300: 6.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2325
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20280
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 1.525e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 2.182411e6

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19063
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1822
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20281
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3945
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00318337437684e-5
allele num: 66596
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.695e0

FS
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 2.182771e6

QD
type: SiteQuality
SIO_000300: 1.38e1

GenotypeQuality
all individuals: 19079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6406
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20282
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3319
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 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: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.911e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.504e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 2.183074e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20286
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.34667179684494e-3
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.184449e6

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.505e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

GenotypeQuality
all individuals: 45
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20283
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6413
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 2.184017e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.17e-1

FS
type: SiteQuality
SIO_000300: 5.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20284
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3322
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
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: 904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.932e0

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

FS
type: SiteQuality
SIO_000300: 1.731e0

DP
type: SiteQuality
SIO_000300: 2.18425e6

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6415
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20288
bin: 9.75e1
variant carriers: 5

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
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: 3
allele frequency: 4.50112528132033e-5
allele num: 66650
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.799e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

DP
type: SiteQuality
SIO_000300: 2.184764e6

QD
type: SiteQuality
SIO_000300: 1.33e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

GenotypeQuality
all individuals: 19151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3186
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 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: 11570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.33e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
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SIO_000300: -1.799e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.184764e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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InbreedingCoeff
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SIO_000300: 6.7e-3

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.885170225043277e-4
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 1.52e0

MQRankSum
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.47e-1

DP
type: SiteQuality
SIO_000300: 2.184789e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.56e-1

DP
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SIO_000300: 2.184943e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.144e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
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SIO_000300: 1.177e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

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

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

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

African
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allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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SIO_000300: 5.971e1

MQRankSum
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InbreedingCoeff
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SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 7.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.185229e6

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

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.513317191283293e-4
allele num: 6608
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

African
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South Asian
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allele count: 1
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MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

Latino
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allele count: 11
allele frequency: 9.504060825989287e-4
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
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African
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South Asian
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66670
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Latino
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BaseQRankSum
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FS
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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VQSLOD
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QD
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BaseQRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66676
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South Asian
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allele num: 16512
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African
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Other
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European (Finnish)
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East Asian
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Latino
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allele frequency: 8.640055296353897e-5
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VQSLOD
type: SiteQuality
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DP
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349649091236279e-4
allele num: 66684
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

DP
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SIO_000300: 2.187664e6

BaseQRankSum
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SIO_000300: -3.499e0

FS
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.336e-1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 4.371e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.232e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

BaseQRankSum
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SIO_000300: -3.451e0

DP
type: SiteQuality
SIO_000300: 2.186747e6

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

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

FS
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

GenotypeQuality
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GenotypeQuality
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variant carriers: 91

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.664145234493192e-3
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 78
allele frequency: 1.169660798368473e-3
allele num: 66686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

DP
type: SiteQuality
SIO_000300: 2.198121e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.997e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6436
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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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.018454440599769e-3
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

FS
type: SiteQuality
SIO_000300: 1.738e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.190565e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

QD
type: SiteQuality
SIO_000300: 1.139e1

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: 2
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GenotypeQuality
all individuals: 3283
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variant carriers: 0

Other
type: Population
allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.210688196847366e-3
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.514050387596899e-3
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 40
allele frequency: 6.047777441790143e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 768
allele frequency: 1.151596941070625e-2
allele num: 66690
num of homozygotes: 6

Latino
type: Population
allele count: 18
allele frequency: 1.555209953343701e-3
allele num: 11574
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.182e1

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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South Asian
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allele count: 0
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allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49829064955317e-5
allele num: 66692
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

ReadPosRankSum
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SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.728e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.234e1

DP
type: SiteQuality
SIO_000300: 2.205993e6

GenotypeQuality
all individuals: 7
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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

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

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

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

Other
type: Population
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allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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South Asian
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allele count: 22
allele frequency: 1.332364341085271e-3
allele num: 16512
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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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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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 11
allele frequency: 1.663138796492289e-3
allele num: 6614
num of homozygotes: 0

Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
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allele count: 30
allele frequency: 4.498155756139983e-4
allele num: 66694
num of homozygotes: 0

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
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MQ
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.197901049475262e-4
allele num: 66700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.157e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.210008e6

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.039e0

FS
type: SiteQuality
SIO_000300: 6.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.808e0

MQ
type: SiteQuality
SIO_000300: 5.989e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.344e0

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

DP
type: SiteQuality
SIO_000300: 2.206704e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

QD
type: SiteQuality
SIO_000300: 1.659e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 4.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

DP
type: SiteQuality
SIO_000300: 2.206666e6

GenotypeQuality
all individuals: 20744
bin: 9.75e1
variant carriers: 905

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.597985128328136e-4
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 872
allele frequency: 8.381391772395233e-2
allele num: 10404
num of homozygotes: 36

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 37
allele frequency: 3.196268140981341e-3
allele num: 11576
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.67e-2

DP
type: SiteQuality
SIO_000300: 2.285139e6

QD
type: SiteQuality
SIO_000300: 1.348e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3292
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variant carriers: 0

GenotypeQuality
all individuals: 2
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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: 1786
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GenotypeQuality
all individuals: 20508
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.387e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.5e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

MQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

DP
type: SiteQuality
SIO_000300: 2.219784e6

GenotypeQuality
all individuals: 3291
bin: 8.25e1
variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6444
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.168e1

DP
type: SiteQuality
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ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1786
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele count: 11
allele frequency: 1.057488944433763e-3
allele num: 10402
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East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.183e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.398e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 647

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.494903465643362e-5
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.245638279495595e-3
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 633
allele frequency: 6.08536819842338e-2
allele num: 10402
num of homozygotes: 18

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.01e-2

MQRankSum
type: SiteQuality
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VQSLOD
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0