6-152651069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651069
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651069
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13992G>A
  hgvsp: ENST00000341594.5:c.13992G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2097G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14538G>A
  hgvsp: ENST00000423061.1:c.14538G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14538G>A
  hgvsp: ENST00000448038.1:c.14538G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14751G>A
  hgvsp: ENST00000367255.5:c.14751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14751G>A
  hgvsp: ENST00000265368.4:c.14751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu4917Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/6-152651069-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651069
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651069
    reference: chr 6
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14751G>T
  hgvsp: ENST00000265368.4:c.14751G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14538G>T
  hgvsp: ENST00000448038.1:c.14538G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14751G>T
  hgvsp: ENST00000367255.5:c.14751G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2097G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13992G>T
  hgvsp: ENST00000341594.5:c.13992G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14538G>T
  hgvsp: ENST00000423061.1:c.14538G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu4917Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

6-152651081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651081
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651081
    reference: chr 6
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2085A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14526A>G
  hgvsp: ENST00000448038.1:c.14526A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14739A>G
  hgvsp: ENST00000367255.5:c.14739A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14526A>G
  hgvsp: ENST00000423061.1:c.14526A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14739A>G
  hgvsp: ENST00000265368.4:c.14739A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13980A>G
  hgvsp: ENST00000341594.5:c.13980A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7170
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu4913Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

6-152651089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651089
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651089
    reference: chr 6
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14518G>C
  hgvsp: ENSP00000390975.1:p.Val4840Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13972G>C
  hgvsp: ENSP00000341887.5:p.Val4658Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2077G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14518G>C
  hgvsp: ENSP00000396024.1:p.Val4840Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14731G>C
  hgvsp: ENSP00000356224.5:p.Val4911Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14731G>C
  hgvsp: ENSP00000265368.4:p.Val4911Leu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val4911Leu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

6-152651090-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651090
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651090
    reference: chr 6
allele count: 5
allele frequency: 4.118887570844866e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14517G>A
  hgvsp: ENST00000448038.1:c.14517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2076G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14730G>A
  hgvsp: ENST00000367255.5:c.14730G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14517G>A
  hgvsp: ENST00000423061.1:c.14517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14730G>A
  hgvsp: ENST00000265368.4:c.14730G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13971G>A
  hgvsp: ENST00000341594.5:c.13971G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18398
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro4910Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

6-152651091-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651091
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651091
    reference: chr 6
allele count: 4
allele frequency: 3.295055768818887e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14516C>T
  hgvsp: ENSP00000396024.1:p.Pro4839Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14516C>T
  hgvsp: ENSP00000390975.1:p.Pro4839Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13970C>T
  hgvsp: ENSP00000341887.5:p.Pro4657Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2075C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14729C>T
  hgvsp: ENSP00000265368.4:p.Pro4910Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14729C>T
  hgvsp: ENSP00000356224.5:p.Pro4910Leu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4853
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro4910Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-152651093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651093
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651093
    reference: chr 6
allele count: 14
allele frequency: 1.153288519836563e-4
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14514G>A
  hgvsp: ENST00000423061.1:c.14514G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13968G>A
  hgvsp: ENST00000341594.5:c.13968G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14514G>A
  hgvsp: ENST00000448038.1:c.14514G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14727G>A
  hgvsp: ENST00000367255.5:c.14727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2073G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14727G>A
  hgvsp: ENST00000265368.4:c.14727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18393
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 7.25e1
  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: 12
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly4909Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

6-152651098-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651098
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651098
    reference: chr 6
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13963A>C
  hgvsp: ENSP00000341887.5:p.Ser4655Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14722A>C
  hgvsp: ENSP00000356224.5:p.Ser4908Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14722A>C
  hgvsp: ENSP00000265368.4:p.Ser4908Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14509A>C
  hgvsp: ENSP00000396024.1:p.Ser4837Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14509A>C
  hgvsp: ENSP00000390975.1:p.Ser4837Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2068A>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18384
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser4908Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

6-152651112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651112
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651112
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13949T>C
  hgvsp: ENSP00000341887.5:p.Val4650Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14708T>C
  hgvsp: ENSP00000356224.5:p.Val4903Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14708T>C
  hgvsp: ENSP00000265368.4:p.Val4903Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14495T>C
  hgvsp: ENSP00000396024.1:p.Val4832Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14495T>C
  hgvsp: ENSP00000390975.1:p.Val4832Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2054T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val4903Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-152651115-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651115
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651115
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14492G>A
  hgvsp: ENSP00000390975.1:p.Arg4831Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2051G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14492G>A
  hgvsp: ENSP00000396024.1:p.Arg4831Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14705G>A
  hgvsp: ENSP00000265368.4:p.Arg4902Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14705G>A
  hgvsp: ENSP00000356224.5:p.Arg4902Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13946G>A
  hgvsp: ENSP00000341887.5:p.Arg4649Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5358
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg4902Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

6-152651125-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651125
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651125
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13936T>C
  hgvsp: ENSP00000341887.5:p.Trp4646Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14695T>C
  hgvsp: ENSP00000356224.5:p.Trp4899Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14482T>C
  hgvsp: ENSP00000396024.1:p.Trp4828Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14482T>C
  hgvsp: ENSP00000390975.1:p.Trp4828Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2041T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14695T>C
  hgvsp: ENSP00000265368.4:p.Trp4899Arg
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12880
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp4899Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

6-152651135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651135
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651135
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14685C>T
  hgvsp: ENST00000265368.4:c.14685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2031C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13926C>T
  hgvsp: ENST00000341594.5:c.13926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14472C>T
  hgvsp: ENST00000448038.1:c.14472C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14685C>T
  hgvsp: ENST00000367255.5:c.14685C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14472C>T
  hgvsp: ENST00000423061.1:c.14472C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7163
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg4895Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/6-152651136-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651136
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651136
    reference: chr 6
allele count: 3
allele frequency: 2.471495419495156e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2030G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14471G>T
  hgvsp: ENSP00000390975.1:p.Arg4824Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14684G>T
  hgvsp: ENSP00000265368.4:p.Arg4895Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14471G>T
  hgvsp: ENSP00000396024.1:p.Arg4824Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14684G>T
  hgvsp: ENSP00000356224.5:p.Arg4895Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13925G>T
  hgvsp: ENSP00000341887.5:p.Arg4642Leu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg4895Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

6-152651136-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651136
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651136
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14684G>A
  hgvsp: ENSP00000356224.5:p.Arg4895His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2030G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13925G>A
  hgvsp: ENSP00000341887.5:p.Arg4642His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14471G>A
  hgvsp: ENSP00000390975.1:p.Arg4824His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14471G>A
  hgvsp: ENSP00000396024.1:p.Arg4824His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14684G>A
  hgvsp: ENSP00000265368.4:p.Arg4895His
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18381
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7167
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg4895His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

6-152651137-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651137
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651137
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14683C>T
  hgvsp: ENSP00000265368.4:p.Arg4895Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14470C>T
  hgvsp: ENSP00000390975.1:p.Arg4824Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14683C>T
  hgvsp: ENSP00000356224.5:p.Arg4895Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14470C>T
  hgvsp: ENSP00000396024.1:p.Arg4824Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2029C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13924C>T
  hgvsp: ENSP00000341887.5:p.Arg4642Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4846
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg4895Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

6-152651145-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651145
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651145
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14675A>C
  hgvsp: ENSP00000356224.5:p.Glu4892Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14675A>C
  hgvsp: ENSP00000265368.4:p.Glu4892Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14462A>C
  hgvsp: ENSP00000396024.1:p.Glu4821Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2021A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14462A>C
  hgvsp: ENSP00000390975.1:p.Glu4821Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13916A>C
  hgvsp: ENSP00000341887.5:p.Glu4639Ala
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu4892Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-152651149-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651149
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651149
    reference: chr 6
allele count: 5
allele frequency: 4.119091163725636e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14671A>G
  hgvsp: ENSP00000265368.4:p.Thr4891Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14458A>G
  hgvsp: ENSP00000390975.1:p.Thr4820Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14458A>G
  hgvsp: ENSP00000396024.1:p.Thr4820Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13912A>G
  hgvsp: ENSP00000341887.5:p.Thr4638Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14671A>G
  hgvsp: ENSP00000356224.5:p.Thr4891Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2017A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr4891Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

6-152651150-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651150
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651150
    reference: chr 6
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14457G>C
  hgvsp: ENSP00000390975.1:p.Gln4819His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13911G>C
  hgvsp: ENSP00000341887.5:p.Gln4637His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14457G>C
  hgvsp: ENSP00000396024.1:p.Gln4819His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2016G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14670G>C
  hgvsp: ENSP00000356224.5:p.Gln4890His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14670G>C
  hgvsp: ENSP00000265368.4:p.Gln4890His
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12869
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5344
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13739
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln4890His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152651153-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651153
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651153
    reference: chr 6
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13908C>A
  hgvsp: ENSP00000341887.5:p.Phe4636Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14454C>A
  hgvsp: ENSP00000390975.1:p.Phe4818Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2013C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14454C>A
  hgvsp: ENSP00000396024.1:p.Phe4818Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14667C>A
  hgvsp: ENSP00000356224.5:p.Phe4889Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14667C>A
  hgvsp: ENSP00000265368.4:p.Phe4889Leu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Phe4889Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

6-152651156-GTCTATAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651156
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651149
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsp: ENSP00000265368.4:p.Ser4886ThrfsTer6
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2003_2009delGTATAGA
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsp: ENSP00000356224.5:p.Ser4886ThrfsTer6
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsp: ENSP00000341887.5:p.Ser4633ThrfsTer6
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsp: ENSP00000390975.1:p.Ser4815ThrfsTer6
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsp: ENSP00000396024.1:p.Ser4815ThrfsTer6
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser4886ThrfsTer6
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: GTCTATAC
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

6-152651157-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651157
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651157
    reference: chr 6
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13904A>C
  hgvsp: ENSP00000341887.5:p.Asp4635Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14450A>C
  hgvsp: ENSP00000396024.1:p.Asp4817Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.2009A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14663A>C
  hgvsp: ENSP00000356224.5:p.Asp4888Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14663A>C
  hgvsp: ENSP00000265368.4:p.Asp4888Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14450A>C
  hgvsp: ENSP00000390975.1:p.Asp4817Ala
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18377
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp4888Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

6-152651169-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651169
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651169
    reference: chr 6
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14651T>C
  hgvsp: ENSP00000356224.5:p.Val4884Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14651T>C
  hgvsp: ENSP00000265368.4:p.Val4884Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14438T>C
  hgvsp: ENSP00000390975.1:p.Val4813Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13892T>C
  hgvsp: ENSP00000341887.5:p.Val4631Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14438T>C
  hgvsp: ENSP00000396024.1:p.Val4813Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1997T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val4884Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

6-152651170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651170
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651170
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13891G>A
  hgvsp: ENSP00000341887.5:p.Val4631Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14650G>A
  hgvsp: ENSP00000356224.5:p.Val4884Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14650G>A
  hgvsp: ENSP00000265368.4:p.Val4884Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14437G>A
  hgvsp: ENSP00000390975.1:p.Val4813Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1996G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14437G>A
  hgvsp: ENSP00000396024.1:p.Val4813Met
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5337
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val4884Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP

6-152651173-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651173
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651173
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14434A>G
  hgvsp: ENSP00000396024.1:p.Met4812Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1993A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14647A>G
  hgvsp: ENSP00000356224.5:p.Met4883Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13888A>G
  hgvsp: ENSP00000341887.5:p.Met4630Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14434A>G
  hgvsp: ENSP00000390975.1:p.Met4812Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14647A>G
  hgvsp: ENSP00000265368.4:p.Met4883Val
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met4883Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

6-152651176-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651176
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651176
    reference: chr 6
allele count: 5
allele frequency: 4.119091163725636e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14644C>T
  hgvsp: ENSP00000265368.4:p.Arg4882Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14644C>T
  hgvsp: ENSP00000356224.5:p.Arg4882Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14431C>T
  hgvsp: ENSP00000396024.1:p.Arg4811Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14431C>T
  hgvsp: ENSP00000390975.1:p.Arg4811Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13885C>T
  hgvsp: ENSP00000341887.5:p.Arg4629Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1990C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg4882Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-152651192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651192
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651192
    reference: chr 6
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1974G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14628G>A
  hgvsp: ENST00000367255.5:c.14628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14415G>A
  hgvsp: ENST00000448038.1:c.14415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13869G>A
  hgvsp: ENST00000341594.5:c.13869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14628G>A
  hgvsp: ENST00000265368.4:c.14628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14415G>A
  hgvsp: ENST00000423061.1:c.14415G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val4876Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

6-152651195-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651195
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651195
    reference: chr 6
allele count: 10
allele frequency: 8.237503706876669e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14412G>A
  hgvsp: ENST00000448038.1:c.14412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1971G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14625G>A
  hgvsp: ENST00000367255.5:c.14625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13866G>A
  hgvsp: ENST00000341594.5:c.13866G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14625G>A
  hgvsp: ENST00000265368.4:c.14625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14412G>A
  hgvsp: ENST00000423061.1:c.14412G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr4875Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

6-152651196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651196
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651196
    reference: chr 6
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14411C>T
  hgvsp: ENSP00000396024.1:p.Thr4804Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14624C>T
  hgvsp: ENSP00000356224.5:p.Thr4875Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14411C>T
  hgvsp: ENSP00000390975.1:p.Thr4804Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1970C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13865C>T
  hgvsp: ENSP00000341887.5:p.Thr4622Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14624C>T
  hgvsp: ENSP00000265368.4:p.Thr4875Met
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr4875Met
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

6-152651200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651200
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651200
    reference: chr 6
allele count: 3
allele frequency: 2.47133254250692e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14620G>A
  hgvsp: ENSP00000265368.4:p.Glu4874Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13861G>A
  hgvsp: ENSP00000341887.5:p.Glu4621Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14620G>A
  hgvsp: ENSP00000356224.5:p.Glu4874Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1966G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14407G>A
  hgvsp: ENSP00000390975.1:p.Glu4803Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14407G>A
  hgvsp: ENSP00000396024.1:p.Glu4803Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13805
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18362
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Glu4874Lys
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

6-152651206-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651206
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651206
    reference: chr 6
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1960A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14614A>G
  hgvsp: ENSP00000356224.5:p.Ile4872Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14401A>G
  hgvsp: ENSP00000390975.1:p.Ile4801Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13855A>G
  hgvsp: ENSP00000341887.5:p.Ile4619Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14614A>G
  hgvsp: ENSP00000265368.4:p.Ile4872Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14401A>G
  hgvsp: ENSP00000396024.1:p.Ile4801Val
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3785
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5329
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile4872Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

6-152651215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651215
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651215
    reference: chr 6
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14392A>G
  hgvsp: ENSP00000390975.1:p.Thr4798Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14392A>G
  hgvsp: ENSP00000396024.1:p.Thr4798Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1951A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14605A>G
  hgvsp: ENSP00000356224.5:p.Thr4869Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14605A>G
  hgvsp: ENSP00000265368.4:p.Thr4869Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13846A>G
  hgvsp: ENSP00000341887.5:p.Thr4616Ala
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr4869Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

6-152651230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651230
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651230
    reference: chr 6
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14590G>A
  hgvsp: ENSP00000356224.5:p.Glu4864Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14377G>A
  hgvsp: ENSP00000396024.1:p.Glu4793Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14590G>A
  hgvsp: ENSP00000265368.4:p.Glu4864Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14377G>A
  hgvsp: ENSP00000390975.1:p.Glu4793Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1936G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13831G>A
  hgvsp: ENSP00000341887.5:p.Glu4611Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu4864Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

6-152651241-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651241
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651241
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1925C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14579C>G
  hgvsp: ENSP00000265368.4:p.Ser4860Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14579C>G
  hgvsp: ENSP00000356224.5:p.Ser4860Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14366C>G
  hgvsp: ENSP00000390975.1:p.Ser4789Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13820C>G
  hgvsp: ENSP00000341887.5:p.Ser4607Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14366C>G
  hgvsp: ENSP00000396024.1:p.Ser4789Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3775
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7077
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser4860Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

6-152651243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651243
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651243
    reference: chr 6
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1923G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14577G>C
  hgvsp: ENSP00000356224.5:p.Gln4859His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14364G>C
  hgvsp: ENSP00000396024.1:p.Gln4788His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14364G>C
  hgvsp: ENSP00000390975.1:p.Gln4788His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13818G>C
  hgvsp: ENSP00000341887.5:p.Gln4606His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14577G>C
  hgvsp: ENSP00000265368.4:p.Gln4859His
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12788
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln4859His
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-152651278-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651278
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651278
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14329C>G
  hgvsp: ENSP00000396024.1:p.Pro4777Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13783C>G
  hgvsp: ENSP00000341887.5:p.Pro4595Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14542C>G
  hgvsp: ENSP00000265368.4:p.Pro4848Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14329C>G
  hgvsp: ENSP00000390975.1:p.Pro4777Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14542C>G
  hgvsp: ENSP00000356224.5:p.Pro4848Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1888C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5265
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro4848Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

6-152651284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651284
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651284
    reference: chr 6
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13777C>T
  hgvsp: ENSP00000341887.5:p.Leu4593Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1882C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14323C>T
  hgvsp: ENSP00000390975.1:p.Leu4775Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14536C>T
  hgvsp: ENSP00000356224.5:p.Leu4846Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14323C>T
  hgvsp: ENSP00000396024.1:p.Leu4775Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14536C>T
  hgvsp: ENSP00000265368.4:p.Leu4846Phe
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7071
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu4846Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-152651284-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651284
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651284
    reference: chr 6
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14323C>G
  hgvsp: ENSP00000396024.1:p.Leu4775Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1882C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14536C>G
  hgvsp: ENSP00000356224.5:p.Leu4846Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14536C>G
  hgvsp: ENSP00000265368.4:p.Leu4846Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13777C>G
  hgvsp: ENSP00000341887.5:p.Leu4593Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14323C>G
  hgvsp: ENSP00000390975.1:p.Leu4775Val
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4824
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu4846Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

6-152651284-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651284
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651284
    reference: chr 6
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13777C>A
  hgvsp: ENSP00000341887.5:p.Leu4593Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14536C>A
  hgvsp: ENSP00000265368.4:p.Leu4846Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14323C>A
  hgvsp: ENSP00000396024.1:p.Leu4775Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14323C>A
  hgvsp: ENSP00000390975.1:p.Leu4775Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1882C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14536C>A
  hgvsp: ENSP00000356224.5:p.Leu4846Ile
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18330
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu4846Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

6-152651285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651285
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651285
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14535C>T
  hgvsp: ENST00000367255.5:c.14535C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14535C>T
  hgvsp: ENST00000265368.4:c.14535C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13776C>T
  hgvsp: ENST00000341594.5:c.13776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14322C>T
  hgvsp: ENST00000448038.1:c.14322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14322C>T
  hgvsp: ENST00000423061.1:c.14322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1881C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His4845His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

6-152651287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651287
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651287
    reference: chr 6
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13774C>T
  hgvsp: ENSP00000341887.5:p.His4592Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14320C>T
  hgvsp: ENSP00000396024.1:p.His4774Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14533C>T
  hgvsp: ENSP00000265368.4:p.His4845Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14320C>T
  hgvsp: ENSP00000390975.1:p.His4774Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14533C>T
  hgvsp: ENSP00000356224.5:p.His4845Tyr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1879C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5268
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His4845Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

6-152651290-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651290
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651290
    reference: chr 6
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14317C>A
  hgvsp: ENSP00000396024.1:p.Pro4773Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1876C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14530C>A
  hgvsp: ENSP00000356224.5:p.Pro4844Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13771C>A
  hgvsp: ENSP00000341887.5:p.Pro4591Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14317C>A
  hgvsp: ENSP00000390975.1:p.Pro4773Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14530C>A
  hgvsp: ENSP00000265368.4:p.Pro4844Thr
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7052
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro4844Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

6-152651307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651307
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651307
    reference: chr 6
allele count: 5
allele frequency: 4.119091163725636e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14300A>G
  hgvsp: ENSP00000396024.1:p.His4767Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14513A>G
  hgvsp: ENSP00000265368.4:p.His4838Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13754A>G
  hgvsp: ENSP00000341887.5:p.His4585Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14300A>G
  hgvsp: ENSP00000390975.1:p.His4767Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14513A>G
  hgvsp: ENSP00000356224.5:p.His4838Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1859A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His4838Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-152651310-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651310
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651310
    reference: chr 6
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14510T>C
  hgvsp: ENSP00000356224.5:p.Ile4837Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1856T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14510T>C
  hgvsp: ENSP00000265368.4:p.Ile4837Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14297T>C
  hgvsp: ENSP00000396024.1:p.Ile4766Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14297T>C
  hgvsp: ENSP00000390975.1:p.Ile4766Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13751T>C
  hgvsp: ENSP00000341887.5:p.Ile4584Thr
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3767
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile4837Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

6-152651319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651319
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651319
    reference: chr 6
allele count: 14
allele frequency: 1.153402537485582e-4
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14501G>A
  hgvsp: ENSP00000356224.5:p.Arg4834Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14501G>A
  hgvsp: ENSP00000265368.4:p.Arg4834Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14288G>A
  hgvsp: ENSP00000396024.1:p.Arg4763Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1847G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14288G>A
  hgvsp: ENSP00000390975.1:p.Arg4763Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13742G>A
  hgvsp: ENSP00000341887.5:p.Arg4581Gln
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2986
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg4834Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

6-152651320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651320
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651320
    reference: chr 6
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14500C>T
  hgvsp: ENSP00000356224.5:p.Arg4834Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14500C>T
  hgvsp: ENSP00000265368.4:p.Arg4834Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14287C>T
  hgvsp: ENSP00000390975.1:p.Arg4763Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13741C>T
  hgvsp: ENSP00000341887.5:p.Arg4581Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14287C>T
  hgvsp: ENSP00000396024.1:p.Arg4763Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1846C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18317
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg4834Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-152651329-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651329
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651329
    reference: chr 6
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13732G>C
  hgvsp: ENSP00000341887.5:p.Val4578Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14278G>C
  hgvsp: ENSP00000396024.1:p.Val4760Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14491G>C
  hgvsp: ENSP00000265368.4:p.Val4831Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1837G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14491G>C
  hgvsp: ENSP00000356224.5:p.Val4831Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14278G>C
  hgvsp: ENSP00000390975.1:p.Val4760Leu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14072
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val4831Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

6-152651350-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651350
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651350
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1816A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14470A>G
  hgvsp: ENSP00000265368.4:p.Ser4824Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13711A>G
  hgvsp: ENSP00000341887.5:p.Ser4571Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14257A>G
  hgvsp: ENSP00000396024.1:p.Ser4753Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14470A>G
  hgvsp: ENSP00000356224.5:p.Ser4824Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14257A>G
  hgvsp: ENSP00000390975.1:p.Ser4753Gly
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser4824Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

6-152651355-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651355
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651355
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1811C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14252C>A
  hgvsp: ENSP00000396024.1:p.Ala4751Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14465C>A
  hgvsp: ENSP00000265368.4:p.Ala4822Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13706C>A
  hgvsp: ENSP00000341887.5:p.Ala4569Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14465C>A
  hgvsp: ENSP00000356224.5:p.Ala4822Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14252C>A
  hgvsp: ENSP00000390975.1:p.Ala4751Glu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14032
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala4822Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

6-152651356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651356
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651356
    reference: chr 6
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14464G>A
  hgvsp: ENSP00000265368.4:p.Ala4822Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14251G>A
  hgvsp: ENSP00000396024.1:p.Ala4751Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14251G>A
  hgvsp: ENSP00000390975.1:p.Ala4751Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13705G>A
  hgvsp: ENSP00000341887.5:p.Ala4569Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14464G>A
  hgvsp: ENSP00000356224.5:p.Ala4822Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1810G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala4822Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

6-152651357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651357
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651357
    reference: chr 6
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14463G>A
  hgvsp: ENST00000265368.4:c.14463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14250G>A
  hgvsp: ENST00000423061.1:c.14250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1809G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13704G>A
  hgvsp: ENST00000341594.5:c.13704G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14250G>A
  hgvsp: ENST00000448038.1:c.14250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14463G>A
  hgvsp: ENST00000367255.5:c.14463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18329
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu4821Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152651359-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651359
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651359
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14461C>G
  hgvsp: ENSP00000265368.4:p.Leu4821Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14248C>G
  hgvsp: ENSP00000390975.1:p.Leu4750Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14248C>G
  hgvsp: ENSP00000396024.1:p.Leu4750Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1807C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14461C>G
  hgvsp: ENSP00000356224.5:p.Leu4821Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13702C>G
  hgvsp: ENSP00000341887.5:p.Leu4568Val
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu4821Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

6-152651367-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651367
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651367
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14240A>G
  hgvsp: ENSP00000396024.1:p.Tyr4747Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13694A>G
  hgvsp: ENSP00000341887.5:p.Tyr4565Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14453A>G
  hgvsp: ENSP00000265368.4:p.Tyr4818Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1799A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14240A>G
  hgvsp: ENSP00000390975.1:p.Tyr4747Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14453A>G
  hgvsp: ENSP00000356224.5:p.Tyr4818Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr4818Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

6-152651368-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651368
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651368
    reference: chr 6
allele count: 38
allele frequency: 3.130612446656012e-4
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14452T>A
  hgvsp: ENSP00000265368.4:p.Tyr4818Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14452T>A
  hgvsp: ENSP00000356224.5:p.Tyr4818Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13693T>A
  hgvsp: ENSP00000341887.5:p.Tyr4565Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14239T>A
  hgvsp: ENSP00000390975.1:p.Tyr4747Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14239T>A
  hgvsp: ENSP00000396024.1:p.Tyr4747Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1798T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6577
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18338
  bin: 9.75e1
  variant carriers: 38
hgvs: p.Tyr4818Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

6-152651371-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651371
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651371
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14449A>G
  hgvsp: ENSP00000356224.5:p.Met4817Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14449A>G
  hgvsp: ENSP00000265368.4:p.Met4817Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14236A>G
  hgvsp: ENSP00000396024.1:p.Met4746Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14236A>G
  hgvsp: ENSP00000390975.1:p.Met4746Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13690A>G
  hgvsp: ENSP00000341887.5:p.Met4564Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1795A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met4817Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

6-152651374-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651374
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651374
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14233A>G
  hgvsp: ENSP00000396024.1:p.Lys4745Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14446A>G
  hgvsp: ENSP00000356224.5:p.Lys4816Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13687A>G
  hgvsp: ENSP00000341887.5:p.Lys4563Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1792A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14446A>G
  hgvsp: ENSP00000265368.4:p.Lys4816Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14233A>G
  hgvsp: ENSP00000390975.1:p.Lys4745Glu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2979
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18325
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys4816Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

6-152651383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651383
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651383
    reference: chr 6
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13678G>A
  hgvsp: ENSP00000341887.5:p.Glu4560Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14224G>A
  hgvsp: ENSP00000390975.1:p.Glu4742Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1783G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14437G>A
  hgvsp: ENSP00000265368.4:p.Glu4813Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14437G>A
  hgvsp: ENSP00000356224.5:p.Glu4813Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14224G>A
  hgvsp: ENSP00000396024.1:p.Glu4742Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu4813Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

6-152651395-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651395
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651395
    reference: chr 6
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1771C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14212C>A
  hgvsp: ENSP00000390975.1:p.Leu4738Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14425C>A
  hgvsp: ENSP00000356224.5:p.Leu4809Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14425C>A
  hgvsp: ENSP00000265368.4:p.Leu4809Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13666C>A
  hgvsp: ENSP00000341887.5:p.Leu4556Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14212C>A
  hgvsp: ENSP00000396024.1:p.Leu4738Met
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13946
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu4809Met
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-152651396-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651396
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651396
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14211G>T
  hgvsp: ENST00000448038.1:c.14211G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1770G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13665G>T
  hgvsp: ENST00000341594.5:c.13665G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14211G>T
  hgvsp: ENST00000423061.1:c.14211G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14424G>T
  hgvsp: ENST00000265368.4:c.14424G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14424G>T
  hgvsp: ENST00000367255.5:c.14424G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr4808Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

6-152651397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651397
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651397
    reference: chr 6
allele count: 9
allele frequency: 7.414119779223988e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14210C>T
  hgvsp: ENSP00000390975.1:p.Thr4737Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14210C>T
  hgvsp: ENSP00000396024.1:p.Thr4737Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13664C>T
  hgvsp: ENSP00000341887.5:p.Thr4555Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14423C>T
  hgvsp: ENSP00000356224.5:p.Thr4808Met
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1769C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14423C>T
  hgvsp: ENSP00000265368.4:p.Thr4808Met
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr4808Met
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

6-152651397-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651397
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651397
    reference: chr 6
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13664C>G
  hgvsp: ENSP00000341887.5:p.Thr4555Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14210C>G
  hgvsp: ENSP00000396024.1:p.Thr4737Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14210C>G
  hgvsp: ENSP00000390975.1:p.Thr4737Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14423C>G
  hgvsp: ENSP00000356224.5:p.Thr4808Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14423C>G
  hgvsp: ENSP00000265368.4:p.Thr4808Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1769C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr4808Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-152651404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651404
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651404
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1762G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14203G>A
  hgvsp: ENSP00000390975.1:p.Glu4735Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14416G>A
  hgvsp: ENSP00000265368.4:p.Glu4806Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14416G>A
  hgvsp: ENSP00000356224.5:p.Glu4806Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13657G>A
  hgvsp: ENSP00000341887.5:p.Glu4553Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14203G>A
  hgvsp: ENSP00000396024.1:p.Glu4735Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu4806Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

6-152651411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651411
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651411
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1755A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14409A>G
  hgvsp: ENST00000265368.4:c.14409A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14196A>G
  hgvsp: ENST00000448038.1:c.14196A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14196A>G
  hgvsp: ENST00000423061.1:c.14196A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13650A>G
  hgvsp: ENST00000341594.5:c.13650A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14409A>G
  hgvsp: ENST00000367255.5:c.14409A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13984
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys4803Lys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

6-152651413-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651413
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651413
    reference: chr 6
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14194A>G
  hgvsp: ENSP00000390975.1:p.Lys4732Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1753A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14407A>G
  hgvsp: ENSP00000356224.5:p.Lys4803Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14407A>G
  hgvsp: ENSP00000265368.4:p.Lys4803Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13648A>G
  hgvsp: ENSP00000341887.5:p.Lys4550Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14194A>G
  hgvsp: ENSP00000396024.1:p.Lys4732Glu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18317
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys4803Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

6-152651419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651419
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651419
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13642C>G
  hgvsp: ENSP00000341887.5:p.Gln4548Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14401C>G
  hgvsp: ENSP00000356224.5:p.Gln4801Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14188C>G
  hgvsp: ENSP00000396024.1:p.Gln4730Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1747C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14401C>G
  hgvsp: ENSP00000265368.4:p.Gln4801Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14188C>G
  hgvsp: ENSP00000390975.1:p.Gln4730Glu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln4801Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

6-152651429-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651429
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651429
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14391A>T
  hgvsp: ENST00000265368.4:c.14391A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14391A>T
  hgvsp: ENST00000367255.5:c.14391A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14178A>T
  hgvsp: ENST00000448038.1:c.14178A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14178A>T
  hgvsp: ENST00000423061.1:c.14178A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1737A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13632A>T
  hgvsp: ENST00000341594.5:c.13632A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val4797Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

6-152651440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651440
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651440
    reference: chr 6
allele count: 16
allele frequency: 1.318152609118321e-4
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13621C>T
  hgvsp: ENST00000341594.5:c.13621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14167C>T
  hgvsp: ENST00000423061.1:c.14167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1726C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14167C>T
  hgvsp: ENST00000448038.1:c.14167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14380C>T
  hgvsp: ENST00000265368.4:c.14380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14380C>T
  hgvsp: ENST00000367255.5:c.14380C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12831
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5275
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7005
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu4794Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

6-152651442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651442
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651442
    reference: chr 6
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14165A>G
  hgvsp: ENSP00000396024.1:p.Gln4722Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14378A>G
  hgvsp: ENSP00000265368.4:p.Gln4793Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13619A>G
  hgvsp: ENSP00000341887.5:p.Gln4540Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14378A>G
  hgvsp: ENSP00000356224.5:p.Gln4793Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14165A>G
  hgvsp: ENSP00000390975.1:p.Gln4722Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1724A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13462
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5277
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18314
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln4793Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS

6-152651455-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651455
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651455
    reference: chr 6
allele count: 7
allele frequency: 5.76672762921589e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14365C>G
  hgvsp: ENSP00000356224.5:p.Gln4789Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14152C>G
  hgvsp: ENSP00000390975.1:p.Gln4718Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14152C>G
  hgvsp: ENSP00000396024.1:p.Gln4718Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13606C>G
  hgvsp: ENSP00000341887.5:p.Gln4536Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14365C>G
  hgvsp: ENSP00000265368.4:p.Gln4789Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1711C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14164
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln4789Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/6-152651465-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651465
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651465
    reference: chr 6
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14355G>T
  hgvsp: ENSP00000356224.5:p.Lys4785Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1701G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14355G>T
  hgvsp: ENSP00000265368.4:p.Lys4785Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14142G>T
  hgvsp: ENSP00000396024.1:p.Lys4714Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14142G>T
  hgvsp: ENSP00000390975.1:p.Lys4714Asn
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13596G>T
  hgvsp: ENSP00000341887.5:p.Lys4532Asn
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9690
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7015
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys4785Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

6-152651470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651470
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651470
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14137G>A
  hgvsp: ENSP00000396024.1:p.Glu4713Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13591G>A
  hgvsp: ENSP00000341887.5:p.Glu4531Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14137G>A
  hgvsp: ENSP00000390975.1:p.Glu4713Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14350G>A
  hgvsp: ENSP00000356224.5:p.Glu4784Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1696G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14350G>A
  hgvsp: ENSP00000265368.4:p.Glu4784Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14150
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu4784Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-152651471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651471
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651471
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14136C>T
  hgvsp: ENST00000448038.1:c.14136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14136C>T
  hgvsp: ENST00000423061.1:c.14136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13590C>T
  hgvsp: ENST00000341594.5:c.13590C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14349C>T
  hgvsp: ENST00000367255.5:c.14349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14349C>T
  hgvsp: ENST00000265368.4:c.14349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1695C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His4783His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

6-152651479-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651479
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651479
    reference: chr 6
allele count: 11
allele frequency: 9.062299187688454e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14128C>G
  hgvsp: ENSP00000390975.1:p.Gln4710Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13582C>G
  hgvsp: ENSP00000341887.5:p.Gln4528Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1687C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14341C>G
  hgvsp: ENSP00000356224.5:p.Gln4781Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14128C>G
  hgvsp: ENSP00000396024.1:p.Gln4710Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14341C>G
  hgvsp: ENSP00000265368.4:p.Gln4781Glu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9693
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18316
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln4781Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/6-152651485-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152651485
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152651485
    reference: chr 6
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.14335G>T
  hgvsp: ENSP00000356224.5:p.Ala4779Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000490135
  gene symbol: SYNE1
  hgvsc: ENST00000490135.2:n.1681G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.14335G>T
  hgvsp: ENSP00000265368.4:p.Ala4779Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.13576G>T
  hgvsp: ENSP00000341887.5:p.Ala4526Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.14122G>T
  hgvsp: ENSP00000390975.1:p.Ala4708Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.14122G>T
  hgvsp: ENSP00000396024.1:p.Ala4708Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala4779Ser
num of homozygotes: 0
reference allele: C

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

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

GenotypeQuality
all individuals: 4319
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5361
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

DP
type: SiteQuality
SIO_000300: 2.214996e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
all individuals: 5361
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13779
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

Other
type: Population
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: 16512
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.337e1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.17e0

DP
type: SiteQuality
SIO_000300: 2.214996e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3785
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4854
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13775
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.06e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 3.469e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 1.429e1

MQRankSum
type: SiteQuality
SIO_000300: -2.415e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.542e0

DP
type: SiteQuality
SIO_000300: 2.214694e6

GenotypeQuality
all individuals: 13765
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18398
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.191e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 2.214571e6

FS
type: SiteQuality
SIO_000300: 4.609e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.006e0

GenotypeQuality
all individuals: 5359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7168
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13764
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4313
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
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: 8654
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 2.215074e6

QD
type: SiteQuality
SIO_000300: 1.065e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 4313
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18395
bin: 9.75e1
variant carriers: 4

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.347e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.214626e6

FS
type: SiteQuality
SIO_000300: 1.934e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13763
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 10
allele frequency: 6.056201550387597e-4
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993766482857828e-5
allele num: 66736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.365e1

MQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 3.485e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e0

VQSLOD
type: SiteQuality
SIO_000300: -1.614e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.215615e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996883241428914e-5
allele num: 66736
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.005e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.68e0

DP
type: SiteQuality
SIO_000300: 2.214205e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: -7.31e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4851
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3787
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7168
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 10392
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.39e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.214036e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

QD
type: SiteQuality
SIO_000300: 1.052e1

MQRankSum
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.431e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.532e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

QD
type: SiteQuality
SIO_000300: 1.478e1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 2.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e0

DP
type: SiteQuality
SIO_000300: 2.2138e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.679e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5356
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.213425e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.231e1

FS
type: SiteQuality
SIO_000300: 3.848e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

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: 2.75e1
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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 8.75e1
variant carriers: 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: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 2.213228e6

MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

QD
type: SiteQuality
SIO_000300: 9.609999999999999e0

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: 1.25e1
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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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5352
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GenotypeQuality
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bin: 4.25e1
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: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 2.213342e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.213342e6

FS
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5349
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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 count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.059e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.597e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.155e0

QD
type: SiteQuality
SIO_000300: 1.663e1

DP
type: SiteQuality
SIO_000300: 2.213282e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.068e-1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.163e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 2.21329e6

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
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allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.213183e6

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.991e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

South Asian
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

QD
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DP
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 2.484e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.708e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.52e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.874e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.136e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

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

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

South Asian
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allele 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: 10396
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
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SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

BaseQRankSum
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SIO_000300: 3.94e0

FS
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MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

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

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

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10398
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Latino
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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
allele num: 8654
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 frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
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DP
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MQ
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.65e0

ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.967e1

BaseQRankSum
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MQRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 6.034e0

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.94e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.213007e6

MQRankSum
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66734
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
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Other
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 8.652182272639877e-4
allele num: 10402
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European (Non-Finnish)
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allele frequency: 1.498486528606108e-5
allele num: 66734
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Other
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European (Finnish)
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South Asian
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Latino
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num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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allele num: 908
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
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num of homozygotes: 0

FS
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QD
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 11572
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.599e0

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.168e0

DP
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SIO_000300: 2.212302e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

QD
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SIO_000300: 1.257e1

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 1.214e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.383e0

DP
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SIO_000300: 2.211783e6

VQSLOD
type: SiteQuality
SIO_000300: -1.309e0

MQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
type: SiteQuality
SIO_000300: 2.210748e6

FS
type: SiteQuality
SIO_000300: 5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.967e0

QD
type: SiteQuality
SIO_000300: 1.273e1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.151e0

ReadPosRankSum
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SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 2.209986e6

MQRankSum
type: SiteQuality
SIO_000300: -5.07e-1

BaseQRankSum
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SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.155e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

QD
type: SiteQuality
SIO_000300: 2.455e1

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
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
SIO_000300: 6.622e0

QD
type: SiteQuality
SIO_000300: 1.643e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.209941e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.245e1

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
SIO_000300: -1.018e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e0

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: 1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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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: 11568
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16504
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MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.061e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
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SIO_000300: -9.1e-2

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: 3

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

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

East Asian
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allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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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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BaseQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele frequency: 1.817741153659719e-4
allele num: 16504
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
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Latino
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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QD
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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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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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num of homozygotes: 0

Latino
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South Asian
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East Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

European (Non-Finnish)
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allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
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SIO_000300: 1.323e0

InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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DP
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ReadPosRankSum
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QD
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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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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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DP
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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num of homozygotes: 0

African
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East Asian
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allele frequency: 5.777675063554426e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11568
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
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QD
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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SIO_000300: 6.62e-1

ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

African
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East Asian
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European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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South Asian
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MQ
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FS
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QD
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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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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Other
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allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
num of homozygotes: 0

East Asian
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num of homozygotes: 0

African
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allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.21112e6

InbreedingCoeff
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MQRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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

Other
type: Population
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allele num: 908
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South Asian
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allele frequency: 6.058403004967891e-5
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European (Non-Finnish)
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allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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QD
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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European (Finnish)
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European (Non-Finnish)
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African
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allele num: 10406
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Latino
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South Asian
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ClippingRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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European (Finnish)
type: Population
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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Other
type: Population
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allele num: 908
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele num: 66730
num of homozygotes: 0

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

European (Finnish)
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East Asian
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Latino
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South Asian
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African
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European (Non-Finnish)
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FS
type: SiteQuality
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MQRankSum
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MQ
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5265
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3768
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 7.78e0

VQSLOD
type: SiteQuality
SIO_000300: -1.402e0

FS
type: SiteQuality
SIO_000300: 8.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

DP
type: SiteQuality
SIO_000300: 2.210885e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18326
bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.211025e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.349e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
SIO_000300: 1.998e0

VQSLOD
type: SiteQuality
SIO_000300: -6.117e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

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

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 2.210757e6

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.29e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

GenotypeQuality
all individuals: 4825
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 38
allele frequency: 3.651739381126273e-3
allele num: 10406
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: 11566
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: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.342e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

FS
type: SiteQuality
SIO_000300: 1.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

DP
type: SiteQuality
SIO_000300: 2.212025e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

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

GenotypeQuality
all individuals: 18324
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2978
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.663e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 2.210814e6

QD
type: SiteQuality
SIO_000300: 1.482e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.549e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.105e0

GenotypeQuality
all individuals: 13998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4250
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4823
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 10406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.210796e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.385e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.495e1

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 3.248e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
all individuals: 13933
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5258
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.588e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

DP
type: SiteQuality
SIO_000300: 2.210812e6

QD
type: SiteQuality
SIO_000300: 1.046e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18322
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.401e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.93e-1

FS
type: SiteQuality
SIO_000300: 1.033e0

DP
type: SiteQuality
SIO_000300: 2.210754e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.837e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.14e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.211021e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2975
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994485073732166e-5
allele num: 66728
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.21102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

FS
type: SiteQuality
SIO_000300: 2.444e0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3770
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5263
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 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
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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
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FS
type: SiteQuality
SIO_000300: 2.444e0

BaseQRankSum
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SIO_000300: 6.32e-1

DP
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SIO_000300: 2.21102e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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: 5.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10406
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South Asian
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allele frequency: 0.0e0
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Other
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num of homozygotes: 0

MQRankSum
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BaseQRankSum
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QD
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MQ
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FS
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SIO_000300: 1.484e0

InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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ClippingRankSum
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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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bin: 9.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
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

DP
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SIO_000300: 2.210699e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.116e0

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: -2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
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SIO_000300: 3.37e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

MQRankSum
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SIO_000300: -5.659999999999999e-1

QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.973e1

VQSLOD
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SIO_000300: -1.135e0

ClippingRankSum
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SIO_000300: 2.14e0

InbreedingCoeff
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SIO_000300: 7.0e-4

DP
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FS
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.52e-1

FS
type: SiteQuality
SIO_000300: 7.572e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 2.211054e6

VQSLOD
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SIO_000300: -1.547e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
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SIO_000300: 5.0e-4

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

GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.988e0

FS
type: SiteQuality
SIO_000300: 4.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
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DP
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QD
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SIO_000300: 1.127e1

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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variant carriers: 16

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

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

Latino
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allele frequency: 1.729505361466621e-4
allele num: 11564
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 14
allele frequency: 2.09819555182543e-4
allele num: 66724
num of homozygotes: 0

East Asian
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Other
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ClippingRankSum
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SIO_000300: -2.43e-1

MQ
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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SIO_000300: 5.22e-1

BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

Other
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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

European (Finnish)
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East Asian
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allele frequency: 8.088745088976196e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 908
num of homozygotes: 0

Latino
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South Asian
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European (Finnish)
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East Asian
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.483e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.211903e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 5.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

GenotypeQuality
all individuals: 3764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4804
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.823e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.617e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

DP
type: SiteQuality
SIO_000300: 2.211825e6

VQSLOD
type: SiteQuality
SIO_000300: -3.506e-1

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14110
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 9
allele frequency: 7.784120394395433e-4
allele num: 11562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.265e0

DP
type: SiteQuality
SIO_000300: 2.212152e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.279e1