20-34208766-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208766
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208766
    reference: chr 20
allele count: 4
allele frequency: 3.298261816022956e-5
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-32C>G
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-32C>G
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-32C>G
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17528
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 7321
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

20-34208771-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208771
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208771
    reference: chr 20
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-27C>G
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-27C>G
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-27C>G
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17525
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17515
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

20-34208772-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208772
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208772
    reference: chr 20
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-26T>C
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-26T>C
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-26T>C
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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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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  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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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-34208774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208774
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208774
    reference: chr 20
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-24G>A
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-24G>A
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-24G>A
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  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: 4.75e1
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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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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: 3232
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

20-34208776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208776
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208776
    reference: chr 20
allele count: 58
allele frequency: 4.781848761666062e-4
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-22C>T
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-22C>T
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-22C>T
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7337
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17558
  bin: 9.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

20-34208778-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208778
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208778
    reference: chr 20
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-20T>G
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-20T>G
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-20T>G
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4393
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17642
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

20-34208788-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208788
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208788
    reference: chr 20
allele count: 34
allele frequency: 2.802320981142028e-4
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-10G>A
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-10G>A
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-10G>A
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8442
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17553
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

20-34208797-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208797
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208797
    reference: chr 20
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.280-1G>A
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.629-1G>A
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1168-1G>A
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3967
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7354
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17536
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17900
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1168-1G>A
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/20-34208803-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208803
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208803
    reference: chr 20
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1173C>A
  hgvsp: ENSP00000363391.3:p.Asp391Glu
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.285C>A
  hgvsp: ENSP00000399231.1:p.Asp95Glu
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.634C>A
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17537
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp391Glu
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

20-34208804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208804
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208804
    reference: chr 20
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.286C>T
  hgvsp: ENSP00000399231.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1174C>T
  hgvsp: ENSP00000363391.3:p.Pro392Ser
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.635C>T
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7349
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro392Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

20-34208809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208809
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208809
    reference: chr 20
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1179A>G
  hgvsp: ENST00000374273.3:c.1179A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.291A>G
  hgvsp: ENST00000430878.1:c.291A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.640A>G
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7357
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17539
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Pro393Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

20-34208815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208815
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208815
    reference: chr 20
allele count: 6
allele frequency: 4.942827956634923e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1185C>T
  hgvsp: ENST00000374273.3:c.1185C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.646C>T
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.297C>T
  hgvsp: ENST00000430878.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17541
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala395Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

20-34208825-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208825
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208825
    reference: chr 20
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.307G>C
  hgvsp: ENSP00000399231.1:p.Val103Leu
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.656G>C
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1195G>C
  hgvsp: ENSP00000363391.3:p.Val399Leu
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val399Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-34208831-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208831
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208831
    reference: chr 20
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.662A>G
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1201A>G
  hgvsp: ENSP00000363391.3:p.Ile401Val
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.313A>G
  hgvsp: ENSP00000399231.1:p.Ile105Val
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3964
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18078
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile401Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-34208845-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208845
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208846
    reference: chr 20
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.329dupA
  hgvsp: ENSP00000399231.1:p.Asn110LysfsTer?
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.678dupA
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1217dupA
  hgvsp: ENSP00000363391.3:p.Asn406LysfsTer?
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn406LysfsTer?
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-34208852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208852
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208852
    reference: chr 20
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000061656
  ensembl transcript: ENST00000498203
  gene symbol: SPAG4
  hgvsc: ENST00000498203.1:n.683G>A
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1222G>A
  hgvsp: ENSP00000363391.3:p.Gly408Ser
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.334G>A
  hgvsp: ENSP00000399231.1:p.Gly112Ser
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17540
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3962
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2392
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly408Ser
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: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

20-34208861-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208861
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208861
    reference: chr 20
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1231C>T
  hgvsp: ENSP00000363391.3:p.Arg411Cys
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.343C>T
  hgvsp: ENSP00000399231.1:p.Arg115Cys
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  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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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg411Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

20-34208862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208862
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208862
    reference: chr 20
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.344G>A
  hgvsp: ENSP00000399231.1:p.Arg115His
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1232G>A
  hgvsp: ENSP00000363391.3:p.Arg411His
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 7360
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 7276
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genotype depth: GenotypeDepth
  all individuals: 555
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 343
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 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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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17540
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg411His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

20-34208869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208869
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208869
    reference: chr 20
allele count: 476
allele frequency: 3.920793384073013e-3
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.351G>A
  hgvsp: ENST00000430878.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1239G>A
  hgvsp: ENST00000374273.3:c.1239G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 24
genotype depth: GenotypeDepth
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  variant carriers: 20
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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 4.25e1
  variant carriers: 7
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
  all individuals: 968
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  variant carriers: 23
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 9579
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.75e1
  variant carriers: 258
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3219
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr413Thr
num of homozygotes: 10
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

20-34208885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208885
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208885
    reference: chr 20
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1255C>T
  hgvsp: ENSP00000363391.3:p.Arg419Cys
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.367C>T
  hgvsp: ENSP00000399231.1:p.Arg123Cys
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8505
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 47
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 333
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 2387
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  variant carriers: 0
hgvs: p.Arg419Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

20-34208893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208893
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208893
    reference: chr 20
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1263C>T
  hgvsp: ENST00000374273.3:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.375C>T
  hgvsp: ENST00000430878.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
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genotype depth: GenotypeDepth
  all individuals: 102
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His421His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.999310158663508e-5
  allele num: 66682
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34208894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208894
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208894
    reference: chr 20
allele count: 6
allele frequency: 4.945027774572667e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.376G>A
  hgvsp: ENSP00000399231.1:p.Gly126Ser
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1264G>A
  hgvsp: ENSP00000363391.3:p.Gly422Ser
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8504
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genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7350
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly422Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 2.31107002542177e-4
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

20-34208894-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208894
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208894
    reference: chr 20
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1264G>T
  hgvsp: ENSP00000363391.3:p.Gly422Cys
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.376G>T
  hgvsp: ENSP00000399231.1:p.Gly126Cys
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  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
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly422Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

20-34208910-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208910
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208910
    reference: chr 20
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.392A>G
  hgvsp: ENSP00000399231.1:p.Glu131Gly
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1280A>G
  hgvsp: ENSP00000363391.3:p.Glu427Gly
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7297
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 332
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genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 17491
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu427Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66630
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-34208921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208921
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208921
    reference: chr 20
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.403G>A
  hgvsp: ENSP00000399231.1:p.Gly135Ser
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1291G>A
  hgvsp: ENSP00000363391.3:p.Gly431Ser
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 17771
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  variant carriers: 0
hgvs: p.Gly431Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-34208924-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208924
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208924
    reference: chr 20
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1294A>G
  hgvsp: ENSP00000363391.3:p.Ser432Gly
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.406A>G
  hgvsp: ENSP00000399231.1:p.Ser136Gly
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 43
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4390
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3705
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17491
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7291
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser432Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

20-34208927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208927
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208927
    reference: chr 20
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.409G>A
  hgvsp: ENSP00000399231.1:p.Ala137Thr
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1297G>A
  hgvsp: ENSP00000363391.3:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
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genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 251
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genotype depth: GenotypeDepth
  all individuals: 9619
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 115
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
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genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 17722
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genotype quality: GenotypeQuality
  all individuals: 300
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 35
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genotype quality: GenotypeQuality
  all individuals: 3967
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genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2388
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala433Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.502087902184036e-5
  allele num: 66574
  num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

20-34208928-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208928
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208928
    reference: chr 20
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.410C>G
  hgvsp: ENSP00000399231.1:p.Ala137Gly
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1298C>G
  hgvsp: ENSP00000363391.3:p.Ala433Gly
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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genotype depth: GenotypeDepth
  all individuals: 280
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genotype depth: GenotypeDepth
  all individuals: 332
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 17491
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 56
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genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala433Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

20-34208933-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208933
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208933
    reference: chr 20
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1303G>A
  hgvsp: ENSP00000363391.3:p.Gly435Arg
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.415G>A
  hgvsp: ENSP00000399231.1:p.Gly139Arg
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly435Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10342
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

20-34208937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208937
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208937
    reference: chr 20
allele count: 9
allele frequency: 7.435312778824229e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.1307C>T
  hgvsp: ENSP00000363391.3:p.Pro436Leu
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.419C>T
  hgvsp: ENSP00000399231.1:p.Pro140Leu
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17491
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro436Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-34208960-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208960
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208960
    reference: chr 20
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000399231
  ensembl transcript: ENST00000430878
  gene symbol: SPAG4
  hgvsc: ENST00000430878.1:c.*16G>C
  variant of: http://identifiers.org/hgnc/11214
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000061656
  ensembl protein: ENSP00000363391
  ensembl transcript: ENST00000374273
  gene symbol: SPAG4
  hgvsc: ENST00000374273.3:c.*16G>C
  variant of: http://identifiers.org/hgnc/11214
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3241
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

20-34208972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208972
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208972
    reference: chr 20
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.650519031141868e-5
  allele num: 11560
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16376
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10238
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

20-34208972-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208972
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208972
    reference: chr 20
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: C
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10238
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11560
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.510026576467746e-5
  allele num: 66224
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

20-34208985-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208985
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208985
    reference: chr 20
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: G
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 785
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 12814
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6592
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3959
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17482
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10144
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.653513326410523e-5
  allele num: 11556
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6604
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

20-34208990-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208990
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208990
    reference: chr 20
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: C
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11840
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genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
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genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 325
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genotype quality: GenotypeQuality
  all individuals: 3955
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genotype quality: GenotypeQuality
  all individuals: 6500
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4310
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 17480
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10070
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.516714190377965e-5
  allele num: 65932
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16300
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

20-34208991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208991
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208991
    reference: chr 20
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
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genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 332
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genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 6090
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genotype depth: GenotypeDepth
  all individuals: 2957
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genotype depth: GenotypeDepth
  all individuals: 5552
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genotype depth: GenotypeDepth
  all individuals: 7208
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genotype quality: GenotypeQuality
  all individuals: 3235
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genotype quality: GenotypeQuality
  all individuals: 1443
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 670
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genotype quality: GenotypeQuality
  all individuals: 793
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3568
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genotype quality: GenotypeQuality
  all individuals: 2384
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genotype quality: GenotypeQuality
  all individuals: 186
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genotype quality: GenotypeQuality
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 348
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genotype quality: GenotypeQuality
  all individuals: 17482
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genotype quality: GenotypeQuality
  all individuals: 1599
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genotype quality: GenotypeQuality
  all individuals: 6483
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genotype quality: GenotypeQuality
  all individuals: 69
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genotype quality: GenotypeQuality
  all individuals: 4319
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genotype quality: GenotypeQuality
  all individuals: 11680
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genotype quality: GenotypeQuality
  all individuals: 800
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genotype quality: GenotypeQuality
  all individuals: 3951
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 894
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.517404631118934e-5
  allele num: 65902
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10058
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

20-34208991-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34208991
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34208991
    reference: chr 20
allele count: 3
allele frequency: 2.501334044823906e-5
allele num: 119936
alternate allele: T
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17482
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 670
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
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genotype quality: GenotypeQuality
  all individuals: 140
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genotype quality: GenotypeQuality
  all individuals: 793
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3235
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genotype quality: GenotypeQuality
  all individuals: 11680
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genotype quality: GenotypeQuality
  all individuals: 2384
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3951
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genotype quality: GenotypeQuality
  all individuals: 3568
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 6483
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.942334460131238e-5
  allele num: 10058
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11552
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6590
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

20-34214032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214032
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214032
    reference: chr 20
allele count: 1
allele frequency: 8.910591128615473e-6
allele num: 112226
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*131T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1829T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.484T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*39T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*131T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*131T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*131T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1923T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*131T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.559T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*131T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.755T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*131T>C
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7606
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

20-34214043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214043
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214043
    reference: chr 20
allele count: 1
allele frequency: 8.833141948591114e-6
allele num: 113210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1818C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*120C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1912C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*120C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.473C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*120C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.744C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.548C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

20-34214047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214047
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214047
    reference: chr 20
allele count: 4
allele frequency: 3.513518261511164e-5
allele num: 113846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*24T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*116T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.740T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*116T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*116T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.544T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*116T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*116T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*116T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*116T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1908T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.469T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1814T>C
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4756
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

20-34214049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214049
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214049
    reference: chr 20
allele count: 1
allele frequency: 8.758101243650377e-6
allele num: 114180
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*114T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.467T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*114T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*114T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*22T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1906T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*114T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1812T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*114T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*114T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.738T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.542T>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*114T>C
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

20-34214051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214051
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214051
    reference: chr 20
allele count: 1
allele frequency: 8.736829229935872e-6
allele num: 114458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1904C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.465C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*112C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1810C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*112C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*112C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*112C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.736C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.540C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-34214055-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214055
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214054
    reference: chr 20
allele count: 1
allele frequency: 8.690060309018545e-6
allele num: 115074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*107delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.460delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*107delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*107delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1899delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*107delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*107delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.535delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1805delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*107delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*15delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*107delT
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.731delT
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: CA
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-34214062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214062
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214062
    reference: chr 20
allele count: 3
allele frequency: 2.58153343085793e-5
allele num: 116210
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.529A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*101A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*101A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*101A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*9A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.725A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*101A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1799A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1893A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.454A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*101A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*101A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*101A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

20-34214069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214069
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214069
    reference: chr 20
allele count: 1
allele frequency: 8.528784648187633e-6
allele num: 117250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*94A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*94A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*94A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*94A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1886A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*94A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.447A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*94A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*94A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1792A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.522A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.718A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9641
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

20-34214072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214072
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214072
    reference: chr 20
allele count: 1
allele frequency: 8.49285750683675e-6
allele num: 117746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*91A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.625A>G
  hgvsp: ENSP00000396069.1:p.Ter209TrpextTer?
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.444A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.715A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1883A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1789A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*91A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.519A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*91A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter209TrpextTer?
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

20-34214077-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214077
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214077
    reference: chr 20
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.439G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.620G>C
  hgvsp: ENSP00000396069.1:p.Gln207His
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*86G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*86G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*86G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*86G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*86G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*86G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1878G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*86G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.710G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1784G>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.514G>C
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln207His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

20-34214077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214077
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214077
    reference: chr 20
allele count: 1
allele frequency: 8.450799445627557e-6
allele num: 118332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*86G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*86G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1784G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.620G>A
  hgvsp: ENST00000415920.1:c.620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*86G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.514G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.710G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*86G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*86G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*86G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1878G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.439G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*86G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln207Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

20-34214083-AGAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214083
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214079
    reference: chr 20
allele count: 4
allele frequency: 3.365303718660609e-5
allele num: 118860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*76_*79delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.504_507delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.610_613delACTC
  hgvsp: ENSP00000396069.1:p.His204LeufsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*76_*79delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*76_*79delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*429_*432delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.700_703delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.429_432delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*76_*79delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*76_*79delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*76_*79delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*76_*79delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1868_1871delACTC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1774_1777delACTC
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His204LeufsTer34
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: AGAGT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

20-34214088-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214088
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214088
    reference: chr 20
allele count: 5
allele frequency: 4.196179797911981e-5
allele num: 119156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1867C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.609C>G
  hgvsp: ENSP00000396069.1:p.His204Asp
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.503C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1773C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.428C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*75C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.699C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*428C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*75C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*75C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His204Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-34214089-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214089
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214089
    reference: chr 20
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*74T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.608T>G
  hgvsp: ENST00000415920.1:c.608T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1866T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.427T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*74T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*74T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*74T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*427T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.698T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.502T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*74T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*74T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*74T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1772T>G
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser203Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

20-34214090-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214090
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214090
    reference: chr 20
allele count: 1
allele frequency: 8.385322331790435e-6
allele num: 119256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*426C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.607C>T
  hgvsp: ENSP00000396069.1:p.Ser203Phe
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*73C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.426C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1865C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*73C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.501C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1771C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*73C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*73C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.697C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser203Phe
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

20-34214103-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214103
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214103
    reference: chr 20
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*413C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*60C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.488C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*60C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*60C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*60C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*60C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1852C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.684C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1758C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.594C>A
  hgvsp: ENSP00000396069.1:p.Gln199Lys
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.413C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*60C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*60C>A
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln199Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34214115-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214115
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214115
    reference: chr 20
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.401C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1746C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*48C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1840C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*401C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*48C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*48C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*48C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.582C>T
  hgvsp: ENSP00000396069.1:p.Pro195Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.672C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.476C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro195Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

20-34214121-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214121
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214121
    reference: chr 20
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1834A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*42A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*42A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.576A>T
  hgvsp: ENSP00000396069.1:p.Arg193Ter
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*42A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1740A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.395A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*395A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.470A>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.666A>T
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

20-34214123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214123
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214123
    reference: chr 20
allele count: 5
allele frequency: 4.143463272341554e-5
allele num: 120672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1832C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*40C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*40C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.664C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*40C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1738C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*393C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.574C>T
  hgvsp: ENSP00000396069.1:p.Pro192Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.393C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.468C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro192Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

20-34214128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214128
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214128
    reference: chr 20
allele count: 2
allele frequency: 1.655793621882969e-5
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1827G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.463G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.569G>A
  hgvsp: ENST00000415920.1:c.569G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1733G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*35G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*35G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*35G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*388G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.388G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.659G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*35G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3336
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu190Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

20-34214130-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214130
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214130
    reference: chr 20
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1731C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.386C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.461C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*386C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1825C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.567C>G
  hgvsp: ENSP00000396069.1:p.Leu190Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*33C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*33C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*33C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.657C>G
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu190Val
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

20-34214131-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214131
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214131
    reference: chr 20
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1730C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.385C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.566C>A
  hgvsp: ENST00000415920.1:c.566C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*385C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*32C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*32C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1824C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.656C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.460C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*32C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*32C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*32C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*32C>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*32C>A
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile189Ile
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-34214133-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214133
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214133
    reference: chr 20
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.458A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*30A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*383A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*30A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.654A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1822A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*30A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.564A>G
  hgvsp: ENSP00000396069.1:p.Ile189Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1728A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.383A>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*30A>G
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile189Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

20-34214135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214135
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214135
    reference: chr 20
allele count: 85
allele frequency: 7.025025620681675e-4
allele num: 120996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.381C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*381C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1820C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.456C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.652C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.562C>T
  hgvsp: ENSP00000396069.1:p.Ser188Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1726C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*28C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser188Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/20-34214139-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214139
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214139
    reference: chr 20
allele count: 3
allele frequency: 2.478355693609147e-5
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.377T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*24T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*24T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*24T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1816T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*24T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.558T>G
  hgvsp: ENSP00000396069.1:p.Ser187Ala
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*24T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*24T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.648T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*377T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1722T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*24T>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.452T>G
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser187Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

20-34214157-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214157
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214157
    reference: chr 20
allele count: 15
allele frequency: 1.237766738732197e-4
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1704C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.*6C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.*6C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*359C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1798C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.*6C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.630C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.540C>T
  hgvsp: ENSP00000396069.1:p.Leu181Phe
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.359C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.*6C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.434C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu181Phe
num of homozygotes: 1
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

20-34214163-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214163
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214163
    reference: chr 20
allele count: 5
allele frequency: 4.124323610927808e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1614G>A
  hgvsp: ENST00000352393.4:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.353G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1629G>A
  hgvsp: ENST00000317677.5:c.1629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1614G>A
  hgvsp: ENST00000397446.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*353G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1614G>A
  hgvsp: ENST00000397443.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.534G>A
  hgvsp: ENSP00000396069.1:p.Gly179Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.428G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1614G>A
  hgvsp: ENST00000317619.3:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1698G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1446G>A
  hgvsp: ENST00000397442.1:c.1446G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1792G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1614G>A
  hgvsp: ENST00000397445.1:c.1614G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.624G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly179Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

20-34214170-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214170
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214171
    reference: chr 20
allele count: 2
allele frequency: 1.649538953862396e-5
allele num: 121246
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.616dupC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1606dupC
  hgvsp: ENSP00000380585.1:p.Gln536ProfsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.420dupC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1621dupC
  hgvsp: ENSP00000317257.5:p.Gln541ProfsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.526dupC
  hgvsp: ENSP00000396069.1:p.Gly177ArgfsTer39
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1606dupC
  hgvsp: ENSP00000380587.1:p.Gln536ProfsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1606dupC
  hgvsp: ENSP00000326126.3:p.Gln536ProfsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1438dupC
  hgvsp: ENSP00000380584.1:p.Gln480ProfsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1606dupC
  hgvsp: ENSP00000380588.1:p.Gln536ProfsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.345dupC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*345dupC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1784dupC
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1606dupC
  hgvsp: ENSP00000336945.4:p.Gln536ProfsTer34
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1690dupC
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln541ProfsTer34
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

20-34214173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214173
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214173
    reference: chr 20
allele count: 9071
allele frequency: 7.478523257539532e-2
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1782C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.418C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1604C>T
  hgvsp: ENSP00000380585.1:p.Pro535Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1619C>T
  hgvsp: ENSP00000317257.5:p.Pro540Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.614C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1436C>T
  hgvsp: ENSP00000380584.1:p.Pro479Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1604C>T
  hgvsp: ENSP00000326126.3:p.Pro535Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1604C>T
  hgvsp: ENSP00000380588.1:p.Pro535Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1604C>T
  hgvsp: ENSP00000336945.4:p.Pro535Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.524C>T
  hgvsp: ENST00000415920.1:c.524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*343C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1688C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1604C>T
  hgvsp: ENSP00000380587.1:p.Pro535Leu
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.343C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 7.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 6.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 3.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 6.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 5.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro540Leu
num of homozygotes: 467
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

20-34214176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214176
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214176
    reference: chr 20
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1433C>T
  hgvsp: ENSP00000380584.1:p.Ala478Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1601C>T
  hgvsp: ENSP00000380587.1:p.Ala534Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1601C>T
  hgvsp: ENSP00000380585.1:p.Ala534Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1616C>T
  hgvsp: ENSP00000317257.5:p.Ala539Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1601C>T
  hgvsp: ENSP00000326126.3:p.Ala534Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1601C>T
  hgvsp: ENSP00000336945.4:p.Ala534Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1601C>T
  hgvsp: ENSP00000380588.1:p.Ala534Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.1598C>T
  hgvsp: ENSP00000415597.1:p.Ala533Val
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*340C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.340C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1779C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.521C>T
  hgvsp: ENST00000415920.1:c.521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.611C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1685C>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.415C>T
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala539Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

20-34214176-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214176
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214176
    reference: chr 20
allele count: 7
allele frequency: 5.77062586559388e-5
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1685C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1433C>G
  hgvsp: ENSP00000380584.1:p.Ala478Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1601C>G
  hgvsp: ENSP00000380587.1:p.Ala534Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.1598C>G
  hgvsp: ENSP00000415597.1:p.Ala533Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1616C>G
  hgvsp: ENSP00000317257.5:p.Ala539Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1601C>G
  hgvsp: ENSP00000380585.1:p.Ala534Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1601C>G
  hgvsp: ENSP00000380588.1:p.Ala534Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*340C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.521C>G
  hgvsp: ENST00000415920.1:c.521C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1601C>G
  hgvsp: ENSP00000336945.4:p.Ala534Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1601C>G
  hgvsp: ENSP00000326126.3:p.Ala534Gly
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.611C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.340C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.415C>G
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1779C>G
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala539Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-34214183-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214183
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214183
    reference: chr 20
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.514G>T
  hgvsp: ENSP00000396069.1:p.Cys172Phe
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*333G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1594G>T
  hgvsp: ENSP00000380585.1:p.Ala532Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1678G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.1591G>T
  hgvsp: ENSP00000415597.1:p.Ala531Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.604G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1594G>T
  hgvsp: ENSP00000326126.3:p.Ala532Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1594G>T
  hgvsp: ENSP00000380587.1:p.Ala532Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1772G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1594G>T
  hgvsp: ENSP00000380588.1:p.Ala532Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1609G>T
  hgvsp: ENSP00000317257.5:p.Ala537Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.408G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.333G>T
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1594G>T
  hgvsp: ENSP00000336945.4:p.Ala532Ser
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1426G>T
  hgvsp: ENSP00000380584.1:p.Ala476Ser
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala537Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

20-34214183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214183
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214183
    reference: chr 20
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1594G>A
  hgvsp: ENSP00000380588.1:p.Ala532Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1594G>A
  hgvsp: ENSP00000326126.3:p.Ala532Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.333G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.408G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1609G>A
  hgvsp: ENSP00000317257.5:p.Ala537Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.1591G>A
  hgvsp: ENSP00000415597.1:p.Ala531Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1594G>A
  hgvsp: ENSP00000380585.1:p.Ala532Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1594G>A
  hgvsp: ENSP00000336945.4:p.Ala532Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1678G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.604G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1594G>A
  hgvsp: ENSP00000380587.1:p.Ala532Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1426G>A
  hgvsp: ENSP00000380584.1:p.Ala476Thr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.514G>A
  hgvsp: ENSP00000396069.1:p.Cys172Tyr
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1772G>A
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*333G>A
  variant of: http://identifiers.org/hgnc/2314
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala537Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

20-34214196-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34214196
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34214196
    reference: chr 20
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380587
  ensembl transcript: ENST00000397445
  gene symbol: CPNE1
  hgvsc: ENST00000397445.1:c.1581A>C
  hgvsp: ENST00000397445.1:c.1581A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380588
  ensembl transcript: ENST00000397446
  gene symbol: CPNE1
  hgvsc: ENST00000397446.1:c.1581A>C
  hgvsp: ENST00000397446.1:c.1581A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000336945
  ensembl transcript: ENST00000352393
  gene symbol: CPNE1
  hgvsc: ENST00000352393.4:c.1581A>C
  hgvsp: ENST00000352393.4:c.1581A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483495
  gene symbol: CPNE1
  hgvsc: ENST00000483495.1:n.1665A>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000415597
  ensembl transcript: ENST00000437340
  gene symbol: CPNE1
  hgvsc: ENST00000437340.1:c.1578A>C
  hgvsp: ENST00000437340.1:c.1578A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000498814
  gene symbol: CPNE1
  hgvsc: ENST00000498814.1:n.320A>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000396069
  ensembl transcript: ENST00000415920
  gene symbol: CPNE1
  hgvsc: ENST00000415920.1:c.501A>C
  hgvsp: ENSP00000396069.1:p.Ser168Arg
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380584
  ensembl transcript: ENST00000397442
  gene symbol: CPNE1
  hgvsc: ENST00000397442.1:c.1413A>C
  hgvsp: ENST00000397442.1:c.1413A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000483359
  gene symbol: CPNE1
  hgvsc: ENST00000483359.1:n.1759A>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000317257
  ensembl transcript: ENST00000317677
  gene symbol: CPNE1
  hgvsc: ENST00000317677.5:c.1596A>C
  hgvsp: ENST00000317677.5:c.1596A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000326126
  ensembl transcript: ENST00000317619
  gene symbol: CPNE1
  hgvsc: ENST00000317619.3:c.1581A>C
  hgvsp: ENST00000317619.3:c.1581A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000462352
  gene symbol: CPNE1
  hgvsc: ENST00000462352.1:n.395A>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000386067
  ensembl transcript: ENST00000401607
  gene symbol: CPNE1
  hgvsc: ENST00000401607.2:c.*320A>C
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000214078
  ensembl protein: ENSP00000380585
  ensembl transcript: ENST00000397443
  gene symbol: CPNE1
  hgvsc: ENST00000397443.1:c.1581A>C
  hgvsp: ENST00000397443.1:c.1581A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2314
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000214078
  ensembl transcript: ENST00000473373
  gene symbol: CPNE1
  hgvsc: ENST00000473373.1:n.591A>C
  variant of: http://identifiers.org/hgnc/2314
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser168Arg
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 2398
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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South Asian
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African
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Latino
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Other
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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DP
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MQRankSum
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MQ
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VQSLOD
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQ
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QD
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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East Asian
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South Asian
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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FS
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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Other
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East Asian
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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FS
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VQSLOD
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DP
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GenotypeQuality
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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FS
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VQSLOD
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ClippingRankSum
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DP
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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DP
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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QD
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VQSLOD
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MQRankSum
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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MQ
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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European (Non-Finnish)
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Latino
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African
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East Asian
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South Asian
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European (Finnish)
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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FS
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VQSLOD
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GenotypeQuality
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Latino
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European (Non-Finnish)
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East Asian
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African
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South Asian
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
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QD
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GenotypeQuality
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East Asian
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European (Finnish)
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South Asian
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African
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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QD
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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VQSLOD
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DP
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FS
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QD
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ClippingRankSum
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SIO_000300: 9.47e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.411e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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East Asian
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allele num: 8654
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
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Latino
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allele frequency: 0.0e0
allele num: 11578
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European (Finnish)
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

Other
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allele num: 908
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South Asian
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allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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African
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allele frequency: 9.611687812379854e-5
allele num: 10404
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66734
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.033e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10404
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Latino
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allele num: 11578
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.058e1

DP
type: SiteQuality
SIO_000300: 2.45186e6

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

FS
type: SiteQuality
SIO_000300: 2.099e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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allele num: 908
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European (Non-Finnish)
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allele count: 17
allele frequency: 2.547427098630383e-4
allele num: 66734
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African
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allele count: 428
allele frequency: 4.113802383698578e-2
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Latino
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allele frequency: 2.591121091725687e-3
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.75e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 5.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.474153e6

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66706
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African
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Latino
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allele count: 0
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allele num: 11578
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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East Asian
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 2.445819e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -2.231e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

Other
type: Population
allele count: 0
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African
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allele count: 0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
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Latino
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allele count: 0
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allele num: 11578
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European (Finnish)
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allele count: 0
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allele num: 6614
num of homozygotes: 0

South Asian
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DP
type: SiteQuality
SIO_000300: 2.445634e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

European (Non-Finnish)
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allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
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European (Finnish)
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allele count: 0
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allele num: 6614
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African
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Other
type: Population
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Latino
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allele count: 0
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South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

DP
type: SiteQuality
SIO_000300: 2.4459e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele num: 11578
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South Asian
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allele count: 0
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European (Non-Finnish)
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allele frequency: 1.499700059988002e-5
allele num: 66680
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African
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

DP
type: SiteQuality
SIO_000300: 2.4459e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

East Asian
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Other
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African
type: Population
allele count: 0
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Latino
type: Population
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 16512
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European (Finnish)
type: Population
allele count: 0
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allele num: 6612
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

African
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allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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Other
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allele count: 0
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European (Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66598
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VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

FS
type: SiteQuality
SIO_000300: 3.449e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.328e1

DP
type: SiteQuality
SIO_000300: 2.443104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

European (Non-Finnish)
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allele count: 0
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allele num: 66584
num of homozygotes: 0

South Asian
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Latino
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East Asian
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allele count: 0
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African
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allele count: 1
allele frequency: 9.650646593321752e-5
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Other
type: Population
allele count: 0
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allele num: 908
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.442282e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.373e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

South Asian
type: Population
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African
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East Asian
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Latino
type: Population
allele count: 0
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Other
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European (Finnish)
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allele num: 6612
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.955e1

Other
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East Asian
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Latino
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African
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South Asian
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European (Non-Finnish)
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allele num: 66560
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

South Asian
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European (Non-Finnish)
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allele frequency: 1.503578516870151e-5
allele num: 66508
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European (Finnish)
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allele count: 0
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Latino
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East Asian
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Other
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

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

African
type: Population
allele count: 7
allele frequency: 6.768516727905628e-4
allele num: 10342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504166541319455e-5
allele num: 66482
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 2.438827e6

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

QD
type: SiteQuality
SIO_000300: 1.151e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.056e0

FS
type: SiteQuality
SIO_000300: 1.803e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.48e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
SIO_000300: 2.421222e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.072e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.829e0

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: 0
allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.408463e6

QD
type: SiteQuality
SIO_000300: 1.065e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 5.178e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.408463e6

QD
type: SiteQuality
SIO_000300: 1.065e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.402e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

MQRankSum
type: SiteQuality
SIO_000300: -1.035e0

FS
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

DP
type: SiteQuality
SIO_000300: 2.385352e6

QD
type: SiteQuality
SIO_000300: 1.568e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 2.381116e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.911e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.016e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.38029e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16298
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034809262237868e-5
allele num: 65902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

QD
type: SiteQuality
SIO_000300: 1.224e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.016e0

DP
type: SiteQuality
SIO_000300: 2.38029e6

VQSLOD
type: SiteQuality
SIO_000300: 4.55e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
all individuals: 6029
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7150
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32804
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2513
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14100
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.20598166907863e-4
allele num: 8292
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

QD
type: SiteQuality
SIO_000300: 1.488e1

DP
type: SiteQuality
SIO_000300: 2.32419e6

GenotypeDepth
all individuals: 7630
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6378
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 1.847e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.449e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 2.354264e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

GenotypeDepth
all individuals: 617
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1460
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3333
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2735
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
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GenotypeQuality
all individuals: 856
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32844
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2839
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1876
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 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: 4
allele frequency: 4.758505829169641e-4
allele num: 8406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.69e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 2.366107e6

FS
type: SiteQuality
SIO_000300: 3.257e0

VQSLOD
type: SiteQuality
SIO_000300: 4.43e-1

GenotypeDepth
all individuals: 3336
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 616
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
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GenotypeQuality
all individuals: 93
bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.25e1
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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: 471
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32846
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14972
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 4.824e0

DP
type: SiteQuality
SIO_000300: 2.371205e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.567e1

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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
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allele frequency: 1.18427285646613e-4
allele num: 8444
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63116
num of homozygotes: 0

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

Other
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MQRankSum
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SIO_000300: 1.84e0

ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: -2.45e-1

MQ
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GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
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variant carriers: 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: 8480
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63384
num of homozygotes: 0

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

Latino
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allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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DP
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FS
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ClippingRankSum
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SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.698659315875204e-5
allele num: 63848
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

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

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

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

Other
type: Population
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num of homozygotes: 0

QD
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SIO_000300: 1.734e1

VQSLOD
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MQ
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SIO_000300: 5.955e1

BaseQRankSum
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ClippingRankSum
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SIO_000300: 2.64e-1

FS
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ReadPosRankSum
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DP
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SIO_000300: 2.39915e6

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

InbreedingCoeff
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SIO_000300: -1.8e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.164468006411046e-5
allele num: 16222
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64356
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

MQ
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SIO_000300: 5.871e1

FS
type: SiteQuality
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QD
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

DP
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SIO_000300: 2.411484e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547843853512058e-5
allele num: 64606
num of homozygotes: 0

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

European (Finnish)
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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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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MQ
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SIO_000300: 5.901e1

QD
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: -1.4e-3

VQSLOD
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GenotypeDepth
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variant carriers: 0

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: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538935056940597e-5
allele num: 64980
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
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num of homozygotes: 0

Other
type: Population
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MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

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

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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GenotypeQuality
all individuals: 1912
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64980
num of homozygotes: 0

South Asian
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allele count: 0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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African
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South Asian
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VQSLOD
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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ClippingRankSum
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South Asian
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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FS
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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DP
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African
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European (Non-Finnish)
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East Asian
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VQSLOD
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DP
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Other
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Latino
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East Asian
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InbreedingCoeff
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MQ
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QD
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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South Asian
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East Asian
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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FS
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InbreedingCoeff
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QD
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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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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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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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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South Asian
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East Asian
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European (Finnish)
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VQSLOD
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MQ
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MQRankSum
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FS
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DP
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InbreedingCoeff
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GenotypeDepth
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European (Non-Finnish)
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African
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InbreedingCoeff
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DP
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QD
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VQSLOD
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MQ
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Latino
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European (Non-Finnish)
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MQ
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VQSLOD
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SIO_000300: 5.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.464869e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

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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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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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: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32922
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.454411e6

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

QD
type: SiteQuality
SIO_000300: 1.273e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

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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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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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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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: 32931
bin: 9.75e1
variant carriers: 14

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.25157610327229e-4
allele num: 66620
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 2.457439e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.19e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.767e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.17e-2

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 11507
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variant carriers: 0

GenotypeQuality
all individuals: 32929
bin: 9.75e1
variant carriers: 5

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
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: 16510
num of homozygotes: 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: 5
allele frequency: 7.502550867294881e-5
allele num: 66644
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

QD
type: SiteQuality
SIO_000300: 1.457e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.358e0

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.443e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.457077e6

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
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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
all individuals: 7179
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variant carriers: 0

GenotypeDepth
all individuals: 7680
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GenotypeDepth
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GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
all individuals: 1820
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GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 32926
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variant carriers: 2

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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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: 3330
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
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: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.03e1

DP
type: SiteQuality
SIO_000300: 2.457712e6

QD
type: SiteQuality
SIO_000300: 9.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

GenotypeDepth
all individuals: 8840
bin: 2.25e1
variant carriers: 17

GenotypeDepth
all individuals: 2933
bin: 5.75e1
variant carriers: 62

GenotypeDepth
all individuals: 614
bin: 7.75e1
variant carriers: 73

GenotypeDepth
all individuals: 8227
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variant carriers: 7663

GenotypeDepth
all individuals: 302
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variant carriers: 112

GenotypeDepth
all individuals: 462
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variant carriers: 91

GenotypeDepth
all individuals: 51
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variant carriers: 8

GenotypeDepth
all individuals: 5308
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variant carriers: 62

GenotypeQuality
all individuals: 24
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variant carriers: 2

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 1557
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2733
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 8601

East Asian
type: Population
allele count: 446
allele frequency: 5.16084239759315e-2
allele num: 8642
num of homozygotes: 10

Other
type: Population
allele count: 50
allele frequency: 5.506607929515418e-2
allele num: 908
num of homozygotes: 3

African
type: Population
allele count: 1092
allele frequency: 1.053647240447704e-1
allele num: 10364
num of homozygotes: 51

South Asian
type: Population
allele count: 2973
allele frequency: 1.800726832222895e-1
allele num: 16510
num of homozygotes: 270

Latino
type: Population
allele count: 277
allele frequency: 2.392881824464409e-2
allele num: 11576
num of homozygotes: 6

European (Non-Finnish)
type: Population
allele count: 3900
allele frequency: 5.84883023395321e-2
allele num: 66680
num of homozygotes: 119

European (Finnish)
type: Population
allele count: 333
allele frequency: 5.034774720290294e-2
allele num: 6614
num of homozygotes: 8

VQSLOD
type: SiteQuality
SIO_000300: 6.93e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.125e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.89e-2

DP
type: SiteQuality
SIO_000300: 3.656141e6

GenotypeDepth
all individuals: 1940
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 752
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variant carriers: 0

GenotypeDepth
all individuals: 46
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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
all individuals: 1490
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GenotypeQuality
all individuals: 1766
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GenotypeQuality
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GenotypeQuality
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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: 21
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 24
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GenotypeQuality
all individuals: 15
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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: 10
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GenotypeQuality
all individuals: 2676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.163e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

DP
type: SiteQuality
SIO_000300: 2.666827e6

QD
type: SiteQuality
SIO_000300: 1.304e1

GenotypeDepth
all individuals: 64
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variant carriers: 0

GenotypeDepth
all individuals: 6984
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 439
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GenotypeDepth
all individuals: 534
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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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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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bin: 9.75e1
variant carriers: 7

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

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: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.049695588279399e-4
allele num: 66686
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.666827e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.42e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.163e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

MQ
type: SiteQuality
SIO_000300: 6.012e1

ClippingRankSum
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SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 2.66616e6

ReadPosRankSum
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SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 4.888e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.884e0

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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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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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variant carriers: 0

GenotypeDepth
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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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

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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bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: -4.884e0

ReadPosRankSum
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SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

DP
type: SiteQuality
SIO_000300: 2.66616e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

FS
type: SiteQuality
SIO_000300: 4.888e0

MQ
type: SiteQuality
SIO_000300: 6.012e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeDepth
all individuals: 69
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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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variant carriers: 0

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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variant carriers: 1

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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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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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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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1