2-219206880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206880
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206880
    reference: chr 2
allele count: 4
allele frequency: 3.388968906210285e-5
allele num: 118030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+13G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+13G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+13G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+9003C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32018
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-219206882-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206880
    reference: chr 2
allele count: 101
allele frequency: 8.571962045728447e-4
allele num: 117826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+22_601+23delAG
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8999_120+9000delCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+22_709+23delAG
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+22_781+23delAG
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11771
  bin: 2.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30673
  bin: 2.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37951
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4596
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: AAG
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-219206884-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206884
    reference: chr 2
allele count: 1
allele frequency: 8.512666848270226e-6
allele num: 117472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+17G>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+17G>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+17G>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8999C>G
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-219206886-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206886
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206886
    reference: chr 2
allele count: 5
allele frequency: 4.263883203711284e-5
allele num: 117264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+19G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8997C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+19G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+19G>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27921
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34101
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-219206887-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206887
    reference: chr 2
allele count: 2
allele frequency: 1.705611461709023e-5
allele num: 117260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+20A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+20A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+20A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8996T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

2-219206890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206890
    reference: chr 2
allele count: 2
allele frequency: 1.712152861007431e-5
allele num: 116812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+23G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+23G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8993C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+23G>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24392
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-219206891-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206891
    reference: chr 2
allele count: 1
allele frequency: 8.576623554838932e-6
allele num: 116596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+24G>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+24G>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+24G>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8992C>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7363
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9023
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1014
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 305
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 420
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-219206892-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206892
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206892
    reference: chr 2
allele count: 1
allele frequency: 8.575446780777278e-6
allele num: 116612
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8991T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+25A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+25A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+25A>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12075
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-219206904-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206904
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206904
    reference: chr 2
allele count: 2
allele frequency: 1.756080428483625e-5
allele num: 113890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+37A>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+37A>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8979T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+37A>C
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15629
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-219206904-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206904
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206904
    reference: chr 2
allele count: 43
allele frequency: 3.775572921239793e-4
allele num: 113890
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8979T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+37A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+37A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+37A>G
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16115
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13735
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15629
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 1
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

2-219206906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206906
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206906
    reference: chr 2
allele count: 1
allele frequency: 8.791363364630586e-6
allele num: 113748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+39G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+39G>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8977C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+39G>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

2-219206917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206917
    reference: chr 2
allele count: 1
allele frequency: 9.292643943054678e-6
allele num: 107612
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8966T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+50A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+50A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+50A>G
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 404
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-219206919-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219206919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219206919
    reference: chr 2
allele count: 57528
allele frequency: 5.34150417827298e-1
allele num: 107700
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.601+52C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.709+52C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.781+52C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+8964G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.25e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 1.25e1
  variant carriers: 10249
genotype depth: GenotypeDepth
  all individuals: 11748
  bin: 2.25e1
  variant carriers: 8354
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.25e1
  variant carriers: 1523
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 784
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 9.75e1
  variant carriers: 446
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 777
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.25e1
  variant carriers: 880
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.25e1
  variant carriers: 515
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 3572
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 7.5e0
  variant carriers: 2999
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 662
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 899
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 352
genotype depth: GenotypeDepth
  all individuals: 16683
  bin: 1.75e1
  variant carriers: 12792
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 6.25e1
  variant carriers: 1415
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 485
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 5.75e1
  variant carriers: 1033
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 7.5e0
  variant carriers: 252
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.25e1
  variant carriers: 320
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.25e1
  variant carriers: 742
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.5e0
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 541
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 1190
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 1340
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 749
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 1053
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 527
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 7.25e1
  variant carriers: 641
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 5.25e1
  variant carriers: 1861
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 4.75e1
  variant carriers: 1997
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 843
num of homozygotes: 15612
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-219208176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208176
    reference: chr 2
allele count: 1
allele frequency: 1.068056564275644e-5
allele num: 93628
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-47T>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7707A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-47T>C
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-47T>C
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18262
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7580
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-219208185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208185
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208185
    reference: chr 2
allele count: 1
allele frequency: 1.063829787234043e-5
allele num: 94000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7698G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-38C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-38C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-38C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-219208190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208190
    reference: chr 2
allele count: 1
allele frequency: 1.055587223172251e-5
allele num: 94734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-33C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7693G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-33C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-33C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6965
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genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-219208199-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208199
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208199
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 96426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-24A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-24A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-24A>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7684T>A
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 542
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
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: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-219208200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208200
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208200
    reference: chr 2
allele count: 1
allele frequency: 1.036183528826626e-5
allele num: 96508
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-23C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7683G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-23C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-23C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-219208204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208204
    reference: chr 2
allele count: 1
allele frequency: 1.026862728990389e-5
allele num: 97384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-19C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-19C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7679G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-19C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-219208205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208205
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208205
    reference: chr 2
allele count: 1
allele frequency: 1.022285831118381e-5
allele num: 97820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-18C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-18C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-18C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7678G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

2-219208207-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208207
    reference: chr 2
allele count: 1
allele frequency: 1.012965964343598e-5
allele num: 98720
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-16T>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-16T>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-16T>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7676A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11726
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-219208209-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208209
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208209
    reference: chr 2
allele count: 1
allele frequency: 1.0057529066259e-5
allele num: 99428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-14C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7674G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-14C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-14C>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 334
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

2-219208214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208214
    reference: chr 2
allele count: 1
allele frequency: 9.850081755678572e-6
allele num: 101522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-9C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7669G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-9C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-9C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 547
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-219208215-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208215
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208215
    reference: chr 2
allele count: 1
allele frequency: 9.809307070548536e-6
allele num: 101944
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-8C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7668G>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-8C>A
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-8C>A
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
hgvs: c.782-8C>A
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

2-219208216-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208216
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208216
    reference: chr 2
allele count: 1
allele frequency: 9.769441187964048e-6
allele num: 102360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-7C>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-7C>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7667G>C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-7C>G
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
hgvs: c.782-7C>G
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-219208220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208220
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208220
    reference: chr 2
allele count: 1
allele frequency: 9.636696540425943e-6
allele num: 103770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-3C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7663G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-3C>T
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-3C>T
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30651
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
hgvs: c.782-3C>T
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-219208221-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208221
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208221
    reference: chr 2
allele count: 1
allele frequency: 9.586624741161132e-6
allele num: 104312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.782-2A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.710-2A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.602-2A>G
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7662T>C
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6148
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
hgvs: c.782-2A>G
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

2-219208225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208225
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208225
    reference: chr 2
allele count: 1
allele frequency: 9.494692466910997e-6
allele num: 105322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.604C>T
  hgvsp: ENSP00000414400.2:p.Arg202Trp
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7658G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.712C>T
  hgvsp: ENSP00000258362.3:p.Arg238Trp
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.784C>T
  hgvsp: ENSP00000273077.4:p.Arg262Trp
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7695
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
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genotype quality: GenotypeQuality
  all individuals: 417
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genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32495
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genotype quality: GenotypeQuality
  all individuals: 1649
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg262Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

2-219208226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208226
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208226
    reference: chr 2
allele count: 6
allele frequency: 5.674617436207842e-5
allele num: 105734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.605G>A
  hgvsp: ENSP00000414400.2:p.Arg202Gln
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.785G>A
  hgvsp: ENSP00000273077.4:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.713G>A
  hgvsp: ENSP00000258362.3:p.Arg238Gln
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7657C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29844
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8614
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg262Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-219208230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208230
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208230
    reference: chr 2
allele count: 10
allele frequency: 9.32331387868504e-5
allele num: 107258
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7653G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.789C>T
  hgvsp: ENST00000273077.4:c.789C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.609C>T
  hgvsp: ENST00000436005.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.717C>T
  hgvsp: ENST00000258362.3:c.717C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31136
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7979
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34830
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr263Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-219208236-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208236
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208236
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 108416
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.615G>T
  hgvsp: ENSP00000414400.2:p.Glu205Asp
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7647C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.795G>T
  hgvsp: ENSP00000273077.4:p.Glu265Asp
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.723G>T
  hgvsp: ENSP00000258362.3:p.Glu241Asp
  variant of: http://identifiers.org/hgnc/9153
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31758
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu265Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-219208242-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 219208242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 219208242
    reference: chr 2
allele count: 1
allele frequency: 9.150135422004245e-6
allele num: 109288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000258362
  ensembl transcript: ENST00000258362
  gene symbol: PNKD
  hgvsc: ENST00000258362.3:c.729T>G
  hgvsp: ENSP00000258362.3:p.Asn243Lys
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000273077
  ensembl transcript: ENST00000273077
  gene symbol: PNKD
  hgvsc: ENST00000273077.4:c.801T>G
  hgvsp: ENSP00000273077.4:p.Asn267Lys
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127838
  ensembl protein: ENSP00000414400
  ensembl transcript: ENST00000436005
  gene symbol: PNKD
  hgvsc: ENST00000436005.2:c.621T>G
  hgvsp: ENSP00000414400.2:p.Asn207Lys
  variant of: http://identifiers.org/hgnc/9153
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237281
  ensembl transcript: ENST00000411433
  gene symbol: AC021016.8
  hgvsc: ENST00000411433.1:n.120+7641A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7073
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn267Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-147680180-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680180
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680181
    reference: chr 6
allele count: 1
allele frequency: 8.745998705592191e-6
allele num: 114338
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-39dupA
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-39dupA
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-39dupA
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-39dupA
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-39dupA
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-39dupA
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

6-147680187-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680187
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680187
    reference: chr 6
allele count: 3
allele frequency: 2.614561363755207e-5
allele num: 114742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-33T>A
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-33T>A
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-33T>A
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-33T>A
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-33T>A
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-33T>A
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23751
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS

6-147680192-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680192
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680192
    reference: chr 6
allele count: 1
allele frequency: 8.673026886383348e-6
allele num: 115300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-28A>T
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-28A>T
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-28A>T
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-28A>T
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-28A>T
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-28A>T
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25552
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

6-147680193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680193
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680193
    reference: chr 6
allele count: 847
allele frequency: 7.335111542192047e-3
allele num: 115472
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-27A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-27A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-27A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-27A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-27A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-27A>G
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 4.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 3.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.75e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27366
  bin: 2.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24855
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 25
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

6-147680196-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680196
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680196
    reference: chr 6
allele count: 3
allele frequency: 2.590405139363797e-5
allele num: 115812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-24T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-24T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-24T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-24T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-24T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-24T>C
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

6-147680203-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680203
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680203
    reference: chr 6
allele count: 2
allele frequency: 1.712211492363537e-5
allele num: 116808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-17A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-17A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-17A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-17A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-17A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-17A>G
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5980
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2928
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27102
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

6-147680212-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680212
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680212
    reference: chr 6
allele count: 1
allele frequency: 8.476012883539584e-6
allele num: 117980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-8C>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-8C>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-8C>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-8C>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-8C>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-8C>G
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1695
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
hgvs: c.2306-8C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

6-147680213-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680213
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680213
    reference: chr 6
allele count: 1
allele frequency: 8.462527926342156e-6
allele num: 118168
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-7A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-7A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-7A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-7A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-7A>G
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-7A>G
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29850
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3091
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2306-7A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

6-147680216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680216
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680216
    reference: chr 6
allele count: 3
allele frequency: 2.531688298536684e-5
allele num: 118498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.278-4T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2306-4T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2147-4T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2198-4T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1271-4T>C
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.282-4T>C
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5942
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30135
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2306-4T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

6-147680226-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680226
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680226
    reference: chr 6
allele count: 1
allele frequency: 8.361064196250898e-6
allele num: 119602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.288A>T
  hgvsp: ENSP00000356445.2:p.Lys97Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.284A>T
  hgvsp: ENSP00000376112.2:p.Lys95Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1277A>T
  hgvsp: ENSP00000179882.6:p.Lys426Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2153A>T
  hgvsp: ENSP00000356450.3:p.Lys718Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2204A>T
  hgvsp: ENSP00000356451.3:p.Lys735Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2312A>T
  hgvsp: ENSP00000321826.6:p.Lys771Met
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys771Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

6-147680230-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680230
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680230
    reference: chr 6
allele count: 3
allele frequency: 2.502711270543088e-5
allele num: 119870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.292T>C
  hgvsp: ENST00000367475.2:c.292T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2157T>C
  hgvsp: ENST00000367480.3:c.2157T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.288T>C
  hgvsp: ENST00000392291.2:c.288T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2316T>C
  hgvsp: ENST00000321680.6:c.2316T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1281T>C
  hgvsp: ENST00000179882.6:c.1281T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2208T>C
  hgvsp: ENST00000367481.3:c.2208T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14063
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp772Asp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

6-147680241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680241
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680241
    reference: chr 6
allele count: 1
allele frequency: 8.308822307526131e-6
allele num: 120354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2219G>A
  hgvsp: ENSP00000356451.3:p.Ser740Asn
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2327G>A
  hgvsp: ENSP00000321826.6:p.Ser776Asn
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.299G>A
  hgvsp: ENSP00000376112.2:p.Ser100Asn
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2168G>A
  hgvsp: ENSP00000356450.3:p.Ser723Asn
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1292G>A
  hgvsp: ENSP00000179882.6:p.Ser431Asn
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.303G>A
  hgvsp: ENSP00000356445.2:p.Ser102Asn
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30650
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser776Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

6-147680244-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680244
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680244
    reference: chr 6
allele count: 2
allele frequency: 1.659558225600345e-5
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2222G>A
  hgvsp: ENSP00000356451.3:p.Arg741Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2171G>A
  hgvsp: ENSP00000356450.3:p.Arg724Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1295G>A
  hgvsp: ENSP00000179882.6:p.Arg432Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2330G>A
  hgvsp: ENSP00000321826.6:p.Arg777Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.306G>A
  hgvsp: ENSP00000356445.2:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.302G>A
  hgvsp: ENSP00000376112.2:p.Arg101Gln
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg777Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

6-147680244-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680244
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680244
    reference: chr 6
allele count: 1
allele frequency: 8.297791128001726e-6
allele num: 120514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1295G>C
  hgvsp: ENSP00000179882.6:p.Arg432Pro
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2171G>C
  hgvsp: ENSP00000356450.3:p.Arg724Pro
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2330G>C
  hgvsp: ENSP00000321826.6:p.Arg777Pro
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.306G>C
  hgvsp: ENSP00000356445.2:p.Arg103Pro
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.302G>C
  hgvsp: ENSP00000376112.2:p.Arg101Pro
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2222G>C
  hgvsp: ENSP00000356451.3:p.Arg741Pro
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4639
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7898
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg777Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

6-147680250-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680250
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680250
    reference: chr 6
allele count: 10
allele frequency: 8.285965232089886e-5
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.312G>A
  hgvsp: ENSP00000356445.2:p.Arg105Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2177G>A
  hgvsp: ENSP00000356450.3:p.Arg726Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2336G>A
  hgvsp: ENSP00000321826.6:p.Arg779Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2228G>A
  hgvsp: ENSP00000356451.3:p.Arg743Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1301G>A
  hgvsp: ENSP00000179882.6:p.Arg434Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.308G>A
  hgvsp: ENSP00000376112.2:p.Arg103Gln
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30706
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg779Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

6-147680266-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680266
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680266
    reference: chr 6
allele count: 2
allele frequency: 1.653849334325643e-5
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2244A>G
  hgvsp: ENST00000367481.3:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2193A>G
  hgvsp: ENST00000367480.3:c.2193A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2352A>G
  hgvsp: ENST00000321680.6:c.2352A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.328A>G
  hgvsp: ENST00000367475.2:c.328A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.324A>G
  hgvsp: ENST00000392291.2:c.324A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1317A>G
  hgvsp: ENST00000179882.6:c.1317A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr784Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum

6-147680270-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680270
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680270
    reference: chr 6
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.328A>G
  hgvsp: ENSP00000376112.2:p.Ile110Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.332A>G
  hgvsp: ENSP00000356445.2:p.Ile112Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1321A>G
  hgvsp: ENSP00000179882.6:p.Ile441Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2248A>G
  hgvsp: ENSP00000356451.3:p.Ile750Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2356A>G
  hgvsp: ENSP00000321826.6:p.Ile786Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2197A>G
  hgvsp: ENSP00000356450.3:p.Ile733Val
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6132
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4814
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30799
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile786Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/6-147680276-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680276
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680276
    reference: chr 6
allele count: 1
allele frequency: 8.262687356435807e-6
allele num: 121026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.338A>C
  hgvsp: ENSP00000356445.2:p.Lys114Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2254A>C
  hgvsp: ENSP00000356451.3:p.Lys752Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2362A>C
  hgvsp: ENSP00000321826.6:p.Lys788Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.334A>C
  hgvsp: ENSP00000376112.2:p.Lys112Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2203A>C
  hgvsp: ENSP00000356450.3:p.Lys735Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1327A>C
  hgvsp: ENSP00000179882.6:p.Lys443Gln
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15050
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30793
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys788Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum

6-147680285-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680285
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680285
    reference: chr 6
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1336C>G
  hgvsp: ENSP00000179882.6:p.Arg446Gly
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2371C>G
  hgvsp: ENSP00000321826.6:p.Arg791Gly
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.343C>G
  hgvsp: ENSP00000376112.2:p.Arg115Gly
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.347C>G
  hgvsp: ENSP00000356445.2:p.Arg117Gly
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2212C>G
  hgvsp: ENSP00000356450.3:p.Arg738Gly
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2263C>G
  hgvsp: ENSP00000356451.3:p.Arg755Gly
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg791Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

6-147680292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680292
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680292
    reference: chr 6
allele count: 3
allele frequency: 2.476023835856127e-5
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2378C>T
  hgvsp: ENSP00000321826.6:p.Ala793Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2270C>T
  hgvsp: ENSP00000356451.3:p.Ala757Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2219C>T
  hgvsp: ENSP00000356450.3:p.Ala740Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.354C>T
  hgvsp: ENSP00000356445.2:p.Ala119Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1343C>T
  hgvsp: ENSP00000179882.6:p.Ala448Val
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.350C>T
  hgvsp: ENSP00000376112.2:p.Ala117Val
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3518
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala793Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

6-147680293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680293
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680293
    reference: chr 6
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2271G>A
  hgvsp: ENST00000367481.3:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.351G>A
  hgvsp: ENST00000392291.2:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2220G>A
  hgvsp: ENST00000367480.3:c.2220G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1344G>A
  hgvsp: ENST00000179882.6:c.1344G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.355G>A
  hgvsp: ENST00000367475.2:c.355G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2379G>A
  hgvsp: ENST00000321680.6:c.2379G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30573
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala793Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

6-147680293-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680293
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680293
    reference: chr 6
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.351G>T
  hgvsp: ENST00000392291.2:c.351G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.355G>T
  hgvsp: ENST00000367475.2:c.355G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2271G>T
  hgvsp: ENST00000367481.3:c.2271G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2220G>T
  hgvsp: ENST00000367480.3:c.2220G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2379G>T
  hgvsp: ENST00000321680.6:c.2379G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1344G>T
  hgvsp: ENST00000179882.6:c.1344G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6159
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala793Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

6-147680295-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680295
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680295
    reference: chr 6
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1346T>C
  hgvsp: ENSP00000179882.6:p.Ile449Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2381T>C
  hgvsp: ENSP00000321826.6:p.Ile794Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.357T>C
  hgvsp: ENSP00000356445.2:p.Ile120Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.353T>C
  hgvsp: ENSP00000376112.2:p.Ile118Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2222T>C
  hgvsp: ENSP00000356450.3:p.Ile741Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2273T>C
  hgvsp: ENSP00000356451.3:p.Ile758Thr
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile794Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS

6-147680296-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680296
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680296
    reference: chr 6
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2223C>G
  hgvsp: ENSP00000356450.3:p.Ile741Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2382C>G
  hgvsp: ENSP00000321826.6:p.Ile794Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1347C>G
  hgvsp: ENSP00000179882.6:p.Ile449Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.354C>G
  hgvsp: ENSP00000376112.2:p.Ile118Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.358C>G
  hgvsp: ENSP00000356445.2:p.Ile120Met
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2274C>G
  hgvsp: ENSP00000356451.3:p.Ile758Met
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30780
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile794Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

6-147680299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680299
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680299
    reference: chr 6
allele count: 95
allele frequency: 7.838801241006007e-4
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2277C>T
  hgvsp: ENST00000367481.3:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.361C>T
  hgvsp: ENST00000367475.2:c.361C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2226C>T
  hgvsp: ENST00000367480.3:c.2226C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1350C>T
  hgvsp: ENST00000179882.6:c.1350C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.357C>T
  hgvsp: ENST00000392291.2:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2385C>T
  hgvsp: ENST00000321680.6:c.2385C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser795Ser
num of homozygotes: 1
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

6-147680300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680300
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680300
    reference: chr 6
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.358G>A
  hgvsp: ENSP00000376112.2:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2227G>A
  hgvsp: ENSP00000356450.3:p.Ala743Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1351G>A
  hgvsp: ENSP00000179882.6:p.Ala451Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2386G>A
  hgvsp: ENSP00000321826.6:p.Ala796Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2278G>A
  hgvsp: ENSP00000356451.3:p.Ala760Thr
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.362G>A
  hgvsp: ENSP00000356445.2:p.Ala122Thr
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30773
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala796Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-147680300-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680300
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680300
    reference: chr 6
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2386G>T
  hgvsp: ENSP00000321826.6:p.Ala796Ser
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1351G>T
  hgvsp: ENSP00000179882.6:p.Ala451Ser
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2227G>T
  hgvsp: ENSP00000356450.3:p.Ala743Ser
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.358G>T
  hgvsp: ENSP00000376112.2:p.Ala120Ser
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2278G>T
  hgvsp: ENSP00000356451.3:p.Ala760Ser
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.362G>T
  hgvsp: ENSP00000356445.2:p.Ala122Ser
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala796Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

6-147680302-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680302
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680302
    reference: chr 6
allele count: 4
allele frequency: 3.299731071917638e-5
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2280T>C
  hgvsp: ENST00000367481.3:c.2280T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1353T>C
  hgvsp: ENST00000179882.6:c.1353T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.364T>C
  hgvsp: ENST00000367475.2:c.364T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2388T>C
  hgvsp: ENST00000321680.6:c.2388T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.360T>C
  hgvsp: ENST00000392291.2:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2229T>C
  hgvsp: ENST00000367480.3:c.2229T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6218
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala796Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/6-147680303-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680303
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680303
    reference: chr 6
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1354C>A
  hgvsp: ENSP00000179882.6:p.Leu452Ile
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.361C>A
  hgvsp: ENSP00000376112.2:p.Leu121Ile
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.365C>A
  hgvsp: ENSP00000356445.2:p.Leu123Ile
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2389C>A
  hgvsp: ENSP00000321826.6:p.Leu797Ile
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2230C>A
  hgvsp: ENSP00000356450.3:p.Leu744Ile
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2281C>A
  hgvsp: ENSP00000356451.3:p.Leu761Ile
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu797Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

5-131308994-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131308994
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131308994
    reference: chr 5
allele count: 2
allele frequency: 1.654369189028224e-5
allele num: 120892
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368566
  ensembl transcript: ENST00000379264
  gene symbol: ACSL6
  hgvsc: ENST00000379264.2:c.1168G>C
  hgvsp: ENSP00000368566.2:p.Val390Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000493861
  gene symbol: ACSL6
  hgvsc: ENST00000493861.1:n.735G>C
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368574
  ensembl transcript: ENST00000379272
  gene symbol: ACSL6
  hgvsc: ENST00000379272.2:c.1138G>C
  hgvsp: ENSP00000368574.2:p.Val380Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000296869
  ensembl transcript: ENST00000296869
  gene symbol: ACSL6
  hgvsc: ENST00000296869.4:c.1168G>C
  hgvsp: ENSP00000296869.4:p.Val390Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000349608
  ensembl transcript: ENST00000357096
  gene symbol: ACSL6
  hgvsc: ENST00000357096.1:c.868G>C
  hgvsp: ENSP00000349608.1:p.Val290Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000484870
  gene symbol: ACSL6
  hgvsc: ENST00000484870.1:n.338G>C
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368551
  ensembl transcript: ENST00000379249
  gene symbol: ACSL6
  hgvsc: ENST00000379249.3:c.1093G>C
  hgvsp: ENSP00000368551.3:p.Val365Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000413329
  ensembl transcript: ENST00000431707
  gene symbol: ACSL6
  hgvsc: ENST00000431707.1:c.1033G>C
  hgvsp: ENSP00000413329.1:p.Val345Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368546
  ensembl transcript: ENST00000379244
  gene symbol: ACSL6
  hgvsc: ENST00000379244.1:c.1093G>C
  hgvsp: ENSP00000368546.1:p.Val365Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368542
  ensembl transcript: ENST00000379240
  gene symbol: ACSL6
  hgvsc: ENST00000379240.1:c.1093G>C
  hgvsp: ENSP00000368542.1:p.Val365Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000415140
  ensembl transcript: ENST00000413683
  gene symbol: ACSL6
  hgvsc: ENST00000413683.1:c.1093G>C
  hgvsp: ENSP00000415140.1:p.Val365Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368557
  ensembl transcript: ENST00000379255
  gene symbol: ACSL6
  hgvsc: ENST00000379255.1:c.868G>C
  hgvsp: ENSP00000368557.1:p.Val290Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000397507
  ensembl transcript: ENST00000434099
  gene symbol: ACSL6
  hgvsc: ENST00000434099.1:c.988G>C
  hgvsp: ENSP00000397507.1:p.Val330Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368548
  ensembl transcript: ENST00000379246
  gene symbol: ACSL6
  hgvsc: ENST00000379246.1:c.1126G>C
  hgvsp: ENSP00000368548.1:p.Val376Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000442124
  ensembl transcript: ENST00000543479
  gene symbol: ACSL6
  hgvsc: ENST00000543479.1:c.1093G>C
  hgvsp: ENSP00000442124.1:p.Val365Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000445154
  ensembl transcript: ENST00000544770
  gene symbol: ACSL6
  hgvsc: ENST00000544770.1:c.820G>C
  hgvsp: ENSP00000445154.1:p.Val274Leu
  variant of: http://identifiers.org/hgnc/16496
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val390Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

5-131308998-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131308998
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131308998
    reference: chr 5
allele count: 7
allele frequency: 5.790292161598783e-5
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000415140
  ensembl transcript: ENST00000413683
  gene symbol: ACSL6
  hgvsc: ENST00000413683.1:c.1089C>G
  hgvsp: ENSP00000415140.1:p.Phe363Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000484870
  gene symbol: ACSL6
  hgvsc: ENST00000484870.1:n.334C>G
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000296869
  ensembl transcript: ENST00000296869
  gene symbol: ACSL6
  hgvsc: ENST00000296869.4:c.1164C>G
  hgvsp: ENSP00000296869.4:p.Phe388Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368546
  ensembl transcript: ENST00000379244
  gene symbol: ACSL6
  hgvsc: ENST00000379244.1:c.1089C>G
  hgvsp: ENSP00000368546.1:p.Phe363Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368548
  ensembl transcript: ENST00000379246
  gene symbol: ACSL6
  hgvsc: ENST00000379246.1:c.1122C>G
  hgvsp: ENSP00000368548.1:p.Phe374Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000349608
  ensembl transcript: ENST00000357096
  gene symbol: ACSL6
  hgvsc: ENST00000357096.1:c.864C>G
  hgvsp: ENSP00000349608.1:p.Phe288Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000442124
  ensembl transcript: ENST00000543479
  gene symbol: ACSL6
  hgvsc: ENST00000543479.1:c.1089C>G
  hgvsp: ENSP00000442124.1:p.Phe363Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000445154
  ensembl transcript: ENST00000544770
  gene symbol: ACSL6
  hgvsc: ENST00000544770.1:c.816C>G
  hgvsp: ENSP00000445154.1:p.Phe272Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368557
  ensembl transcript: ENST00000379255
  gene symbol: ACSL6
  hgvsc: ENST00000379255.1:c.864C>G
  hgvsp: ENSP00000368557.1:p.Phe288Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368542
  ensembl transcript: ENST00000379240
  gene symbol: ACSL6
  hgvsc: ENST00000379240.1:c.1089C>G
  hgvsp: ENSP00000368542.1:p.Phe363Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368574
  ensembl transcript: ENST00000379272
  gene symbol: ACSL6
  hgvsc: ENST00000379272.2:c.1134C>G
  hgvsp: ENSP00000368574.2:p.Phe378Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000413329
  ensembl transcript: ENST00000431707
  gene symbol: ACSL6
  hgvsc: ENST00000431707.1:c.1029C>G
  hgvsp: ENSP00000413329.1:p.Phe343Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368566
  ensembl transcript: ENST00000379264
  gene symbol: ACSL6
  hgvsc: ENST00000379264.2:c.1164C>G
  hgvsp: ENSP00000368566.2:p.Phe388Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000493861
  gene symbol: ACSL6
  hgvsc: ENST00000493861.1:n.731C>G
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368551
  ensembl transcript: ENST00000379249
  gene symbol: ACSL6
  hgvsc: ENST00000379249.3:c.1089C>G
  hgvsp: ENSP00000368551.3:p.Phe363Leu
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000397507
  ensembl transcript: ENST00000434099
  gene symbol: ACSL6
  hgvsc: ENST00000434099.1:c.984C>G
  hgvsp: ENSP00000397507.1:p.Phe328Leu
  variant of: http://identifiers.org/hgnc/16496
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe388Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

5-131309001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131309001
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131309001
    reference: chr 5
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000484870
  gene symbol: ACSL6
  hgvsc: ENST00000484870.1:n.331C>T
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368557
  ensembl transcript: ENST00000379255
  gene symbol: ACSL6
  hgvsc: ENST00000379255.1:c.861C>T
  hgvsp: ENST00000379255.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368546
  ensembl transcript: ENST00000379244
  gene symbol: ACSL6
  hgvsc: ENST00000379244.1:c.1086C>T
  hgvsp: ENST00000379244.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368548
  ensembl transcript: ENST00000379246
  gene symbol: ACSL6
  hgvsc: ENST00000379246.1:c.1119C>T
  hgvsp: ENST00000379246.1:c.1119C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000349608
  ensembl transcript: ENST00000357096
  gene symbol: ACSL6
  hgvsc: ENST00000357096.1:c.861C>T
  hgvsp: ENST00000357096.1:c.861C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000413329
  ensembl transcript: ENST00000431707
  gene symbol: ACSL6
  hgvsc: ENST00000431707.1:c.1026C>T
  hgvsp: ENST00000431707.1:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368574
  ensembl transcript: ENST00000379272
  gene symbol: ACSL6
  hgvsc: ENST00000379272.2:c.1131C>T
  hgvsp: ENST00000379272.2:c.1131C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000415140
  ensembl transcript: ENST00000413683
  gene symbol: ACSL6
  hgvsc: ENST00000413683.1:c.1086C>T
  hgvsp: ENST00000413683.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000442124
  ensembl transcript: ENST00000543479
  gene symbol: ACSL6
  hgvsc: ENST00000543479.1:c.1086C>T
  hgvsp: ENST00000543479.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000445154
  ensembl transcript: ENST00000544770
  gene symbol: ACSL6
  hgvsc: ENST00000544770.1:c.813C>T
  hgvsp: ENST00000544770.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000397507
  ensembl transcript: ENST00000434099
  gene symbol: ACSL6
  hgvsc: ENST00000434099.1:c.981C>T
  hgvsp: ENST00000434099.1:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000493861
  gene symbol: ACSL6
  hgvsc: ENST00000493861.1:n.728C>T
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000296869
  ensembl transcript: ENST00000296869
  gene symbol: ACSL6
  hgvsc: ENST00000296869.4:c.1161C>T
  hgvsp: ENST00000296869.4:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368542
  ensembl transcript: ENST00000379240
  gene symbol: ACSL6
  hgvsc: ENST00000379240.1:c.1086C>T
  hgvsp: ENST00000379240.1:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368551
  ensembl transcript: ENST00000379249
  gene symbol: ACSL6
  hgvsc: ENST00000379249.3:c.1086C>T
  hgvsp: ENST00000379249.3:c.1086C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368566
  ensembl transcript: ENST00000379264
  gene symbol: ACSL6
  hgvsc: ENST00000379264.2:c.1161C>T
  hgvsp: ENST00000379264.2:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile387Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-131309003-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131309003
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131309003
    reference: chr 5
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000493861
  gene symbol: ACSL6
  hgvsc: ENST00000493861.1:n.726A>T
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368557
  ensembl transcript: ENST00000379255
  gene symbol: ACSL6
  hgvsc: ENST00000379255.1:c.859A>T
  hgvsp: ENSP00000368557.1:p.Ile287Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368551
  ensembl transcript: ENST00000379249
  gene symbol: ACSL6
  hgvsc: ENST00000379249.3:c.1084A>T
  hgvsp: ENSP00000368551.3:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368546
  ensembl transcript: ENST00000379244
  gene symbol: ACSL6
  hgvsc: ENST00000379244.1:c.1084A>T
  hgvsp: ENSP00000368546.1:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000445154
  ensembl transcript: ENST00000544770
  gene symbol: ACSL6
  hgvsc: ENST00000544770.1:c.811A>T
  hgvsp: ENSP00000445154.1:p.Ile271Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000397507
  ensembl transcript: ENST00000434099
  gene symbol: ACSL6
  hgvsc: ENST00000434099.1:c.979A>T
  hgvsp: ENSP00000397507.1:p.Ile327Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000349608
  ensembl transcript: ENST00000357096
  gene symbol: ACSL6
  hgvsc: ENST00000357096.1:c.859A>T
  hgvsp: ENSP00000349608.1:p.Ile287Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000296869
  ensembl transcript: ENST00000296869
  gene symbol: ACSL6
  hgvsc: ENST00000296869.4:c.1159A>T
  hgvsp: ENSP00000296869.4:p.Ile387Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000442124
  ensembl transcript: ENST00000543479
  gene symbol: ACSL6
  hgvsc: ENST00000543479.1:c.1084A>T
  hgvsp: ENSP00000442124.1:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368548
  ensembl transcript: ENST00000379246
  gene symbol: ACSL6
  hgvsc: ENST00000379246.1:c.1117A>T
  hgvsp: ENSP00000368548.1:p.Ile373Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000413329
  ensembl transcript: ENST00000431707
  gene symbol: ACSL6
  hgvsc: ENST00000431707.1:c.1024A>T
  hgvsp: ENSP00000413329.1:p.Ile342Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368574
  ensembl transcript: ENST00000379272
  gene symbol: ACSL6
  hgvsc: ENST00000379272.2:c.1129A>T
  hgvsp: ENSP00000368574.2:p.Ile377Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368566
  ensembl transcript: ENST00000379264
  gene symbol: ACSL6
  hgvsc: ENST00000379264.2:c.1159A>T
  hgvsp: ENSP00000368566.2:p.Ile387Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000484870
  gene symbol: ACSL6
  hgvsc: ENST00000484870.1:n.329A>T
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000415140
  ensembl transcript: ENST00000413683
  gene symbol: ACSL6
  hgvsc: ENST00000413683.1:c.1084A>T
  hgvsp: ENSP00000415140.1:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368542
  ensembl transcript: ENST00000379240
  gene symbol: ACSL6
  hgvsc: ENST00000379240.1:c.1084A>T
  hgvsp: ENSP00000368542.1:p.Ile362Phe
  variant of: http://identifiers.org/hgnc/16496
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile387Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-131309003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131309003
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131309003
    reference: chr 5
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000493861
  gene symbol: ACSL6
  hgvsc: ENST00000493861.1:n.726A>G
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000349608
  ensembl transcript: ENST00000357096
  gene symbol: ACSL6
  hgvsc: ENST00000357096.1:c.859A>G
  hgvsp: ENSP00000349608.1:p.Ile287Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000442124
  ensembl transcript: ENST00000543479
  gene symbol: ACSL6
  hgvsc: ENST00000543479.1:c.1084A>G
  hgvsp: ENSP00000442124.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000397507
  ensembl transcript: ENST00000434099
  gene symbol: ACSL6
  hgvsc: ENST00000434099.1:c.979A>G
  hgvsp: ENSP00000397507.1:p.Ile327Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368548
  ensembl transcript: ENST00000379246
  gene symbol: ACSL6
  hgvsc: ENST00000379246.1:c.1117A>G
  hgvsp: ENSP00000368548.1:p.Ile373Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000413329
  ensembl transcript: ENST00000431707
  gene symbol: ACSL6
  hgvsc: ENST00000431707.1:c.1024A>G
  hgvsp: ENSP00000413329.1:p.Ile342Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000415140
  ensembl transcript: ENST00000413683
  gene symbol: ACSL6
  hgvsc: ENST00000413683.1:c.1084A>G
  hgvsp: ENSP00000415140.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368542
  ensembl transcript: ENST00000379240
  gene symbol: ACSL6
  hgvsc: ENST00000379240.1:c.1084A>G
  hgvsp: ENSP00000368542.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000445154
  ensembl transcript: ENST00000544770
  gene symbol: ACSL6
  hgvsc: ENST00000544770.1:c.811A>G
  hgvsp: ENSP00000445154.1:p.Ile271Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368574
  ensembl transcript: ENST00000379272
  gene symbol: ACSL6
  hgvsc: ENST00000379272.2:c.1129A>G
  hgvsp: ENSP00000368574.2:p.Ile377Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368557
  ensembl transcript: ENST00000379255
  gene symbol: ACSL6
  hgvsc: ENST00000379255.1:c.859A>G
  hgvsp: ENSP00000368557.1:p.Ile287Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368546
  ensembl transcript: ENST00000379244
  gene symbol: ACSL6
  hgvsc: ENST00000379244.1:c.1084A>G
  hgvsp: ENSP00000368546.1:p.Ile362Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000296869
  ensembl transcript: ENST00000296869
  gene symbol: ACSL6
  hgvsc: ENST00000296869.4:c.1159A>G
  hgvsp: ENSP00000296869.4:p.Ile387Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000484870
  gene symbol: ACSL6
  hgvsc: ENST00000484870.1:n.329A>G
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368551
  ensembl transcript: ENST00000379249
  gene symbol: ACSL6
  hgvsc: ENST00000379249.3:c.1084A>G
  hgvsp: ENSP00000368551.3:p.Ile362Val
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368566
  ensembl transcript: ENST00000379264
  gene symbol: ACSL6
  hgvsc: ENST00000379264.2:c.1159A>G
  hgvsp: ENSP00000368566.2:p.Ile387Val
  variant of: http://identifiers.org/hgnc/16496
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile387Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-147680316-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680316
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680316
    reference: chr 6
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2243A>C
  hgvsp: ENSP00000356450.3:p.Glu748Ala
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1367A>C
  hgvsp: ENSP00000179882.6:p.Glu456Ala
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2294A>C
  hgvsp: ENSP00000356451.3:p.Glu765Ala
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.378A>C
  hgvsp: ENSP00000356445.2:p.Glu127Ala
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2402A>C
  hgvsp: ENSP00000321826.6:p.Glu801Ala
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.374A>C
  hgvsp: ENSP00000376112.2:p.Glu125Ala
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30795
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu801Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

6-147680317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680317
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680317
    reference: chr 6
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2244A>G
  hgvsp: ENST00000367480.3:c.2244A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1368A>G
  hgvsp: ENST00000179882.6:c.1368A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.375A>G
  hgvsp: ENST00000392291.2:c.375A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2295A>G
  hgvsp: ENST00000367481.3:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.379A>G
  hgvsp: ENST00000367475.2:c.379A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2403A>G
  hgvsp: ENST00000321680.6:c.2403A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu801Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

6-147680320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680320
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680320
    reference: chr 6
allele count: 17
allele frequency: 1.401992478722702e-4
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.378G>A
  hgvsp: ENST00000392291.2:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2247G>A
  hgvsp: ENST00000367480.3:c.2247G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.382G>A
  hgvsp: ENST00000367475.2:c.382G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2298G>A
  hgvsp: ENST00000367481.3:c.2298G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2406G>A
  hgvsp: ENST00000321680.6:c.2406G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1371G>A
  hgvsp: ENST00000179882.6:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1900
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr802Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-147680327-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680327
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680327
    reference: chr 6
allele count: 295
allele frequency: 2.432548321129362e-3
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.389C>A
  hgvsp: ENST00000367475.2:c.389C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2413C>A
  hgvsp: ENST00000321680.6:c.2413C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1378C>A
  hgvsp: ENST00000179882.6:c.1378C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2305C>A
  hgvsp: ENST00000367481.3:c.2305C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2254C>A
  hgvsp: ENST00000367480.3:c.2254C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.385C>A
  hgvsp: ENST00000392291.2:c.385C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7735
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 9.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg805Arg
num of homozygotes: 2
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

6-147680328-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 147680328
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 147680328
    reference: chr 6
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000376112
  ensembl transcript: ENST00000392291
  gene symbol: STXBP5
  hgvsc: ENST00000392291.2:c.386G>A
  hgvsp: ENSP00000376112.2:p.Arg129Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356450
  ensembl transcript: ENST00000367480
  gene symbol: STXBP5
  hgvsc: ENST00000367480.3:c.2255G>A
  hgvsp: ENSP00000356450.3:p.Arg752Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000179882
  ensembl transcript: ENST00000179882
  gene symbol: STXBP5
  hgvsc: ENST00000179882.6:c.1379G>A
  hgvsp: ENSP00000179882.6:p.Arg460Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000321826
  ensembl transcript: ENST00000321680
  gene symbol: STXBP5
  hgvsc: ENST00000321680.6:c.2414G>A
  hgvsp: ENSP00000321826.6:p.Arg805Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356445
  ensembl transcript: ENST00000367475
  gene symbol: STXBP5
  hgvsc: ENST00000367475.2:c.390G>A
  hgvsp: ENSP00000356445.2:p.Arg131Gln
  variant of: http://identifiers.org/hgnc/19665
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164506
  ensembl protein: ENSP00000356451
  ensembl transcript: ENST00000367481
  gene symbol: STXBP5
  hgvsc: ENST00000367481.3:c.2306G>A
  hgvsp: ENSP00000356451.3:p.Arg769Gln
  variant of: http://identifiers.org/hgnc/19665
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg805Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-131309004-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131309004
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131309004
    reference: chr 5
allele count: 3
allele frequency: 2.481143310837634e-5
allele num: 120912
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000442124
  ensembl transcript: ENST00000543479
  gene symbol: ACSL6
  hgvsc: ENST00000543479.1:c.1083C>G
  hgvsp: ENST00000543479.1:c.1083C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000493861
  gene symbol: ACSL6
  hgvsc: ENST00000493861.1:n.725C>G
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000397507
  ensembl transcript: ENST00000434099
  gene symbol: ACSL6
  hgvsc: ENST00000434099.1:c.978C>G
  hgvsp: ENST00000434099.1:c.978C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368546
  ensembl transcript: ENST00000379244
  gene symbol: ACSL6
  hgvsc: ENST00000379244.1:c.1083C>G
  hgvsp: ENST00000379244.1:c.1083C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368566
  ensembl transcript: ENST00000379264
  gene symbol: ACSL6
  hgvsc: ENST00000379264.2:c.1158C>G
  hgvsp: ENST00000379264.2:c.1158C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368551
  ensembl transcript: ENST00000379249
  gene symbol: ACSL6
  hgvsc: ENST00000379249.3:c.1083C>G
  hgvsp: ENST00000379249.3:c.1083C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000413329
  ensembl transcript: ENST00000431707
  gene symbol: ACSL6
  hgvsc: ENST00000431707.1:c.1023C>G
  hgvsp: ENST00000431707.1:c.1023C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368542
  ensembl transcript: ENST00000379240
  gene symbol: ACSL6
  hgvsc: ENST00000379240.1:c.1083C>G
  hgvsp: ENST00000379240.1:c.1083C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000415140
  ensembl transcript: ENST00000413683
  gene symbol: ACSL6
  hgvsc: ENST00000413683.1:c.1083C>G
  hgvsp: ENST00000413683.1:c.1083C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368548
  ensembl transcript: ENST00000379246
  gene symbol: ACSL6
  hgvsc: ENST00000379246.1:c.1116C>G
  hgvsp: ENST00000379246.1:c.1116C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000445154
  ensembl transcript: ENST00000544770
  gene symbol: ACSL6
  hgvsc: ENST00000544770.1:c.810C>G
  hgvsp: ENST00000544770.1:c.810C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368557
  ensembl transcript: ENST00000379255
  gene symbol: ACSL6
  hgvsc: ENST00000379255.1:c.858C>G
  hgvsp: ENST00000379255.1:c.858C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000349608
  ensembl transcript: ENST00000357096
  gene symbol: ACSL6
  hgvsc: ENST00000357096.1:c.858C>G
  hgvsp: ENST00000357096.1:c.858C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368574
  ensembl transcript: ENST00000379272
  gene symbol: ACSL6
  hgvsc: ENST00000379272.2:c.1128C>G
  hgvsp: ENST00000379272.2:c.1128C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000296869
  ensembl transcript: ENST00000296869
  gene symbol: ACSL6
  hgvsc: ENST00000296869.4:c.1158C>G
  hgvsp: ENST00000296869.4:c.1158C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000484870
  gene symbol: ACSL6
  hgvsc: ENST00000484870.1:n.328C>G
  variant of: http://identifiers.org/hgnc/16496
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr386Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

5-131309007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 131309007
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 131309007
    reference: chr 5
allele count: 15
allele frequency: 1.240756365080153e-4
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368546
  ensembl transcript: ENST00000379244
  gene symbol: ACSL6
  hgvsc: ENST00000379244.1:c.1080C>T
  hgvsp: ENST00000379244.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368566
  ensembl transcript: ENST00000379264
  gene symbol: ACSL6
  hgvsc: ENST00000379264.2:c.1155C>T
  hgvsp: ENST00000379264.2:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368574
  ensembl transcript: ENST00000379272
  gene symbol: ACSL6
  hgvsc: ENST00000379272.2:c.1125C>T
  hgvsp: ENST00000379272.2:c.1125C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000413329
  ensembl transcript: ENST00000431707
  gene symbol: ACSL6
  hgvsc: ENST00000431707.1:c.1020C>T
  hgvsp: ENST00000431707.1:c.1020C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368551
  ensembl transcript: ENST00000379249
  gene symbol: ACSL6
  hgvsc: ENST00000379249.3:c.1080C>T
  hgvsp: ENST00000379249.3:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000415140
  ensembl transcript: ENST00000413683
  gene symbol: ACSL6
  hgvsc: ENST00000413683.1:c.1080C>T
  hgvsp: ENST00000413683.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000349608
  ensembl transcript: ENST00000357096
  gene symbol: ACSL6
  hgvsc: ENST00000357096.1:c.855C>T
  hgvsp: ENST00000357096.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000296869
  ensembl transcript: ENST00000296869
  gene symbol: ACSL6
  hgvsc: ENST00000296869.4:c.1155C>T
  hgvsp: ENST00000296869.4:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000397507
  ensembl transcript: ENST00000434099
  gene symbol: ACSL6
  hgvsc: ENST00000434099.1:c.975C>T
  hgvsp: ENST00000434099.1:c.975C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368557
  ensembl transcript: ENST00000379255
  gene symbol: ACSL6
  hgvsc: ENST00000379255.1:c.855C>T
  hgvsp: ENST00000379255.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000445154
  ensembl transcript: ENST00000544770
  gene symbol: ACSL6
  hgvsc: ENST00000544770.1:c.807C>T
  hgvsp: ENST00000544770.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368542
  ensembl transcript: ENST00000379240
  gene symbol: ACSL6
  hgvsc: ENST00000379240.1:c.1080C>T
  hgvsp: ENST00000379240.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000368548
  ensembl transcript: ENST00000379246
  gene symbol: ACSL6
  hgvsc: ENST00000379246.1:c.1113C>T
  hgvsp: ENST00000379246.1:c.1113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164398
  ensembl protein: ENSP00000442124
  ensembl transcript: ENST00000543479
  gene symbol: ACSL6
  hgvsc: ENST00000543479.1:c.1080C>T
  hgvsp: ENST00000543479.1:c.1080C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000484870
  gene symbol: ACSL6
  hgvsc: ENST00000484870.1:n.325C>T
  variant of: http://identifiers.org/hgnc/16496
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000164398
  ensembl transcript: ENST00000493861
  gene symbol: ACSL6
  hgvsc: ENST00000493861.1:n.722C>T
  variant of: http://identifiers.org/hgnc/16496
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro385Pro
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 291
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.969708968521085e-4
allele num: 10102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545642832854184e-5
allele num: 64698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 3.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.408774e6

QD
type: SiteQuality
SIO_000300: 1.099e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.082e0

GenotypeQuality
all individuals: 1925
bin: 9.75e1
variant carriers: 101

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

African
type: Population
allele count: 94
allele frequency: 9.306930693069307e-3
allele num: 10100
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.371530886302597e-4
allele num: 11170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.548610896026264e-5
allele num: 64574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 2.195e0

DP
type: SiteQuality
SIO_000300: 1.388292e6

MQ
type: SiteQuality
SIO_000300: 6.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64478
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.377053e6

QD
type: SiteQuality
SIO_000300: 2.952e1

FS
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.955e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.124e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.09674222717701e-4
allele num: 16146
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 6.949e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

DP
type: SiteQuality
SIO_000300: 1.349056e6

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.438e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4405
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64212
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.399808015358771e-4
allele num: 8334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.236e0

FS
type: SiteQuality
SIO_000300: 5.643e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.348456e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.011e0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

GenotypeQuality
all individuals: 1834
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4238
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.127638945360148e-5
allele num: 63946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8294
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 5.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

VQSLOD
type: SiteQuality
SIO_000300: -6.97e-2

DP
type: SiteQuality
SIO_000300: 1.308775e6

GenotypeQuality
all individuals: 658
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27511
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567054251418184e-5
allele num: 63814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16106
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.739e0

QD
type: SiteQuality
SIO_000300: 2.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.254e0

DP
type: SiteQuality
SIO_000300: 1.288205e6

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27921
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567005139776858e-5
allele num: 63816
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

DP
type: SiteQuality
SIO_000300: 1.287673e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.461e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4824
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62250
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.257861635220126e-4
allele num: 15900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.184407e6

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

FS
type: SiteQuality
SIO_000300: 3.277e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 41

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606425702811245e-5
allele num: 62250
num of homozygotes: 0

East Asian
type: Population
allele count: 42
allele frequency: 5.229083665338645e-3
allele num: 8032
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.277e0

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

DP
type: SiteQuality
SIO_000300: 1.184407e6

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4814
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607510288065844e-5
allele num: 62208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.595e0

QD
type: SiteQuality
SIO_000300: 2.628e1

DP
type: SiteQuality
SIO_000300: 1.182456e6

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeQuality
all individuals: 1833
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 297
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variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.996001599360256e-5
allele num: 10004
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.559e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.044e0

VQSLOD
type: SiteQuality
SIO_000300: -6.934e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.159674e6

GenotypeQuality
all individuals: 1709
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variant carriers: 613

GenotypeQuality
all individuals: 3338
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variant carriers: 1701

GenotypeQuality
all individuals: 28854
bin: 9.75e1
variant carriers: 28303

European (Non-Finnish)
type: Population
allele count: 31163
allele frequency: 5.309401301666269e-1
allele num: 58694
num of homozygotes: 8081

South Asian
type: Population
allele count: 9893
allele frequency: 6.317369093231162e-1
allele num: 15660
num of homozygotes: 3155

Other
type: Population
allele count: 467
allele frequency: 5.737100737100738e-1
allele num: 814
num of homozygotes: 131

East Asian
type: Population
allele count: 4764
allele frequency: 6.387771520514883e-1
allele num: 7458
num of homozygotes: 1502

African
type: Population
allele count: 2071
allele frequency: 2.279330838652873e-1
allele num: 9086
num of homozygotes: 237

European (Finnish)
type: Population
allele count: 3321
allele frequency: 5.469367588932806e-1
allele num: 6072
num of homozygotes: 862

Latino
type: Population
allele count: 5849
allele frequency: 5.898547801532876e-1
allele num: 9916
num of homozygotes: 1644

QD
type: SiteQuality
SIO_000300: 2.181e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

FS
type: SiteQuality
SIO_000300: 1.687e0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.328158e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10977
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6400
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.230314960629921e-4
allele num: 8128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4202
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6724
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.249623e6

MQ
type: SiteQuality
SIO_000300: 5.728e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.68403258029814e-5
allele num: 13014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52472
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.68e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.315e0

DP
type: SiteQuality
SIO_000300: 1.280229e6

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

QD
type: SiteQuality
SIO_000300: 1.469e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52914
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.464557703573521e-4
allele num: 6828
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13056
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.83e-1

QD
type: SiteQuality
SIO_000300: 6.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.305298e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.358021e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.124e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.855494118083646e-5
allele num: 53894
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

QD
type: SiteQuality
SIO_000300: 1.777e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.603e0

DP
type: SiteQuality
SIO_000300: 1.364332e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.836749687752553e-5
allele num: 54444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7106
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.531e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.388314e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

QD
type: SiteQuality
SIO_000300: 2.951e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.829625292740047e-5
allele num: 54656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9148
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.114e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.398188e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.913e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.377031120903333e-4
allele num: 7262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13414
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

FS
type: SiteQuality
SIO_000300: 6.904e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.415673e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.801931670751045e-5
allele num: 55496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.432301e6

FS
type: SiteQuality
SIO_000300: 1.615e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.764228502875693e-5
allele num: 56682
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4600
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4628
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.293946024799416e-5
allele num: 13710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56898
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 8704
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MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 1.478801e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.063e0

MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 7.26321905868681e-5
allele num: 13768
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57114
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 4650
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ReadPosRankSum
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.72669820768726e-5
allele num: 57914
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4748
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.188e0

DP
type: SiteQuality
SIO_000300: 1.509318e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9982
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8876
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.289989680082559e-4
allele num: 7752
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58216
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.285e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.01e-1

FS
type: SiteQuality
SIO_000300: 2.771e0

QD
type: SiteQuality
SIO_000300: 5.37e0

DP
type: SiteQuality
SIO_000300: 1.516147e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7862
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8952
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.700680272108843e-5
allele num: 58800
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14024
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.53512e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.10126402499645e-5
allele num: 14082
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.471991595784337e-5
allele num: 59018
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

FS
type: SiteQuality
SIO_000300: 2.595e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.541572e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.246e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 10
allele frequency: 7.016559079427449e-4
allele num: 14252
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

FS
type: SiteQuality
SIO_000300: 1.836e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.561444e6

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.369e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.546e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.578787e6

QD
type: SiteQuality
SIO_000300: 7.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.16e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.641012176310348e-5
allele num: 60938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.590147e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.655e1

VQSLOD
type: SiteQuality
SIO_000300: -2.176e0

FS
type: SiteQuality
SIO_000300: 1.3605e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.87e-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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bin: 2.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572920598968164e-5
allele num: 63576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.153e1

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.45e-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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8242
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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.706768332862657e-5
allele num: 63738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.466739e6

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.388e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63988
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.748549061951681e-5
allele num: 14818
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.497315e6

MQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.277e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
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variant carriers: 797

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 4

European (Non-Finnish)
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allele count: 25
allele frequency: 3.904053969642076e-4
allele num: 64036
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 6.107418717442069e-3
allele num: 11134
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

African
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allele count: 753
allele frequency: 7.658665581773799e-2
allele num: 9832
num of homozygotes: 25

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

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

DP
type: SiteQuality
SIO_000300: 1.508763e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.096e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1600
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.117887319552272e-5
allele num: 64146
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6472
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African
type: Population
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allele frequency: 1.01276078590237e-4
allele num: 9874
num of homozygotes: 0

Latino
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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
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.958e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

QD
type: SiteQuality
SIO_000300: 1.39e1

GenotypeQuality
all individuals: 2335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5894
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6942
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.08071472581639e-4
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64564
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 2.057e1

DP
type: SiteQuality
SIO_000300: 1.555303e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.25e0

VQSLOD
type: SiteQuality
SIO_000300: -2.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

GenotypeQuality
all individuals: 7255
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
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variant carriers: 0

GenotypeQuality
all individuals: 5921
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variant carriers: 1

GenotypeQuality
all individuals: 4147
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variant carriers: 0

GenotypeQuality
all individuals: 29647
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536192700012289e-5
allele num: 65096
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.568e0

DP
type: SiteQuality
SIO_000300: 1.588963e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.713e0

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

FS
type: SiteQuality
SIO_000300: 1.2225e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.484e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.228e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

GenotypeQuality
all individuals: 682
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4198
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variant carriers: 0

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533789380042332e-5
allele num: 65198
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.592182e6

FS
type: SiteQuality
SIO_000300: 5.142e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.308e1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3046
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 272
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 4236
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.968533544429052e-4
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.092e0

MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.424e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.334e1

DP
type: SiteQuality
SIO_000300: 1.598952e6

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

GenotypeQuality
all individuals: 4418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 155
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variant carriers: 0

GenotypeQuality
all individuals: 3193
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65830
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.91e-1

DP
type: SiteQuality
SIO_000300: 1.62227e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 5.369e0

QD
type: SiteQuality
SIO_000300: 1.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3300
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4490
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variant carriers: 0

GenotypeQuality
all individuals: 204
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variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.546970202188609e-5
allele num: 65978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

FS
type: SiteQuality
SIO_000300: 3.631e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.627828e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: -1.209e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 166
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7842
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GenotypeQuality
all individuals: 164
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GenotypeQuality
all individuals: 1792
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GenotypeQuality
all individuals: 6023
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.263e0

DP
type: SiteQuality
SIO_000300: 1.639995e6

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

FS
type: SiteQuality
SIO_000300: 8.102e0

QD
type: SiteQuality
SIO_000300: 1.587e1

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7898
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 139
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GenotypeQuality
all individuals: 6053
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3361
bin: 8.25e1
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GenotypeQuality
all individuals: 30695
bin: 6.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016500256402522e-5
allele num: 66302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 7.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.477e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.483e1

DP
type: SiteQuality
SIO_000300: 1.646209e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3398
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 433
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 6053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
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GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

FS
type: SiteQuality
SIO_000300: 7.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.483e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.646209e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.477e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7968
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GenotypeQuality
all individuals: 3408
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GenotypeQuality
all individuals: 6088
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 68
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1839
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GenotypeQuality
all individuals: 4694
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 8
allele frequency: 7.723498744931454e-4
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215066828675577e-4
allele num: 16460
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 1.651729e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.474e1

GenotypeQuality
all individuals: 1868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6118
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 219
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4807
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.319647413593134e-4
allele num: 8622
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.553e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

DP
type: SiteQuality
SIO_000300: 1.658074e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.108e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

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

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8074
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.004e0

FS
type: SiteQuality
SIO_000300: 1.482e0

MQRankSum
type: SiteQuality
SIO_000300: -9.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.206e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

DP
type: SiteQuality
SIO_000300: 1.659369e6

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6141
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
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: 8624
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

QD
type: SiteQuality
SIO_000300: 1.259e1

FS
type: SiteQuality
SIO_000300: 3.629e0

DP
type: SiteQuality
SIO_000300: 1.661011e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

GenotypeQuality
all individuals: 1886
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1530
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6144
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4853
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 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: 8634
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -3.964e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.367e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.83e-1

FS
type: SiteQuality
SIO_000300: 1.144e0

DP
type: SiteQuality
SIO_000300: 1.662977e6

QD
type: SiteQuality
SIO_000300: 3.424e1

GenotypeQuality
all individuals: 4869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6155
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501530520376928e-5
allele num: 66644
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

FS
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e-2

QD
type: SiteQuality
SIO_000300: 1.338e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.1e0

DP
type: SiteQuality
SIO_000300: 1.664186e6

GenotypeQuality
all individuals: 1895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 906
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.664336e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.252e0

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.065e1

VQSLOD
type: SiteQuality
SIO_000300: -2.034e-1

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

GenotypeQuality
all individuals: 3520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4869
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
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: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -2.034e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.252e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 8.23e-1

DP
type: SiteQuality
SIO_000300: 1.664336e6

QD
type: SiteQuality
SIO_000300: 1.065e1

GenotypeQuality
all individuals: 3523
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6162
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.264e1

MQRankSum
type: SiteQuality
SIO_000300: -2.426e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

DP
type: SiteQuality
SIO_000300: 1.664459e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8137
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6163
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4876
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3523
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.029385034837928e-4
allele num: 6602
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 1.664586e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

FS
type: SiteQuality
SIO_000300: 1.624e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

QD
type: SiteQuality
SIO_000300: 1.616e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6244
bin: 9.75e1
variant carriers: 94

GenotypeQuality
all individuals: 30765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 70
allele frequency: 6.728181468665898e-3
allele num: 10404
num of homozygotes: 1

Latino
type: Population
allele count: 7
allele frequency: 6.10394140216254e-4
allele num: 11468
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 6
allele frequency: 6.938020351526364e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.800288046087374e-4
allele num: 66656
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.669847e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.495e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6212
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
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: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 1.998e0

DP
type: SiteQuality
SIO_000300: 1.668616e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.610000000000001e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6212
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

DP
type: SiteQuality
SIO_000300: 1.668616e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.610000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.998e0

QD
type: SiteQuality
SIO_000300: 1.435e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 908
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

DP
type: SiteQuality
SIO_000300: 1.669212e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
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SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 4.191e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.651e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999670036296008e-5
allele num: 66674
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 1.669397e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.577e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 5.636e0

QD
type: SiteQuality
SIO_000300: 1.545e1

GenotypeDepth
all individuals: 11476
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2331
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
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variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 253
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 14
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.734906315058987e-4
allele num: 11528
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 2.151e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.212e1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

DP
type: SiteQuality
SIO_000300: 1.682038e6

GenotypeDepth
all individuals: 2327
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 478
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 950
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 250
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variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeDepth
all individuals: 158
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variant carriers: 0

GenotypeDepth
all individuals: 141
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variant carriers: 0

GenotypeDepth
all individuals: 7
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GenotypeDepth
all individuals: 26
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variant carriers: 1

GenotypeDepth
all individuals: 15
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variant carriers: 1

GenotypeDepth
all individuals: 23
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variant carriers: 2

GenotypeDepth
all individuals: 41
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 302
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053487042109382e-4
allele num: 66446
num of homozygotes: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

FS
type: SiteQuality
SIO_000300: 1.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 1.68247e6

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1780
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.215e1

DP
type: SiteQuality
SIO_000300: 1.682252e6

FS
type: SiteQuality
SIO_000300: 2.065e0

MQRankSum
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SIO_000300: 1.33e0

ReadPosRankSum
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SIO_000300: 1.94e0

BaseQRankSum
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SIO_000300: -3.693e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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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: 2151
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GenotypeQuality
all individuals: 28
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.68237e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
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SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 5.174e0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

South Asian
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allele 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: 8636
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 5.174e0

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

QD
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SIO_000300: 1.346e1

DP
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ClippingRankSum
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SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4876
bin: 7.75e1
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: 11486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
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: 6608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.794e0

ClippingRankSum
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SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
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SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 5.607e0

InbreedingCoeff
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SIO_000300: 9.299999999999999e-3

BaseQRankSum
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SIO_000300: 5.66e0

QD
type: SiteQuality
SIO_000300: 1.726e1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 1.670055e6

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8144
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.59e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.670137e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

FS
type: SiteQuality
SIO_000300: 9.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

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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variant carriers: 17

GenotypeQuality
all individuals: 30785
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349568138195777e-4
allele num: 66688
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.938020351526364e-4
allele num: 8648
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
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SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
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SIO_000300: 1.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.671689e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 293

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

African
type: Population
allele count: 280
allele frequency: 2.691272587466359e-2
allele num: 10404
num of homozygotes: 2

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

Latino
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allele count: 10
allele frequency: 8.695652173913044e-4
allele num: 11500
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498155756139982e-5
allele num: 66694
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

DP
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SIO_000300: 1.690763e6

InbreedingCoeff
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SIO_000300: 6.2e-3

MQ
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SIO_000300: 5.97e1

ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.238e1

ClippingRankSum
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SIO_000300: 1.27e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

FS
type: SiteQuality
SIO_000300: 4.565e0

BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.690356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513993379476377e-5
allele num: 66460
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

BaseQRankSum
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SIO_000300: -3.15e0

QD
type: SiteQuality
SIO_000300: 1.293e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
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SIO_000300: 9.72e-1

ReadPosRankSum
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SIO_000300: -6.35e-1

DP
type: SiteQuality
SIO_000300: 1.682643e6

FS
type: SiteQuality
SIO_000300: 1.272e0

ClippingRankSum
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SIO_000300: 2.01e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 26
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GenotypeDepth
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GenotypeDepth
all individuals: 19
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GenotypeDepth
all individuals: 41
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variant carriers: 0

GenotypeDepth
all individuals: 7
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GenotypeDepth
all individuals: 948
bin: 4.25e1
variant carriers: 1