3-38591914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591914
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591914
    reference: chr 3
allele count: 2
allele frequency: 1.799694052011158e-5
allele num: 111130
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5850C>T
  hgvsp: ENST00000455624.2:c.5850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5946C>T
  hgvsp: ENST00000443581.1:c.5946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5787C>T
  hgvsp: ENST00000449557.2:c.5787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5895C>T
  hgvsp: ENST00000425664.1:c.5895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5895C>T
  hgvsp: ENST00000414099.2:c.5895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5946C>T
  hgvsp: ENST00000423572.2:c.5946C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5787C>T
  hgvsp: ENST00000450102.2:c.5787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5787C>T
  hgvsp: ENST00000451551.2:c.5787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5949C>T
  hgvsp: ENST00000413689.1:c.5949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5949C>T
  hgvsp: ENST00000333535.4:c.5949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1983Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-38591915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591915
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591915
    reference: chr 3
allele count: 1
allele frequency: 8.993938085730218e-6
allele num: 111186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5786C>T
  hgvsp: ENSP00000413996.2:p.Ala1929Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5945C>T
  hgvsp: ENSP00000398266.2:p.Ala1982Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5948C>T
  hgvsp: ENSP00000410257.1:p.Ala1983Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5948C>T
  hgvsp: ENSP00000328968.4:p.Ala1983Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5894C>T
  hgvsp: ENSP00000416634.1:p.Ala1965Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5945C>T
  hgvsp: ENSP00000397915.1:p.Ala1982Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5786C>T
  hgvsp: ENSP00000388797.2:p.Ala1929Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5786C>T
  hgvsp: ENSP00000403355.2:p.Ala1929Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5894C>T
  hgvsp: ENSP00000398962.2:p.Ala1965Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5849C>T
  hgvsp: ENSP00000399524.2:p.Ala1950Val
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala1983Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

3-38591918-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591918
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591918
    reference: chr 3
allele count: 1
allele frequency: 8.981498113885396e-6
allele num: 111340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5891G>C
  hgvsp: ENSP00000398962.2:p.Arg1964Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5942G>C
  hgvsp: ENSP00000397915.1:p.Arg1981Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5783G>C
  hgvsp: ENSP00000403355.2:p.Arg1928Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5846G>C
  hgvsp: ENSP00000399524.2:p.Arg1949Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5945G>C
  hgvsp: ENSP00000328968.4:p.Arg1982Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5891G>C
  hgvsp: ENSP00000416634.1:p.Arg1964Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5783G>C
  hgvsp: ENSP00000388797.2:p.Arg1928Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5783G>C
  hgvsp: ENSP00000413996.2:p.Arg1928Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5945G>C
  hgvsp: ENSP00000410257.1:p.Arg1982Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5942G>C
  hgvsp: ENSP00000398266.2:p.Arg1981Thr
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1982Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-38591923-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591923
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591923
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 111636
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5778C>G
  hgvsp: ENST00000450102.2:c.5778C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5937C>G
  hgvsp: ENST00000443581.1:c.5937C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5778C>G
  hgvsp: ENST00000449557.2:c.5778C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5940C>G
  hgvsp: ENST00000413689.1:c.5940C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5940C>G
  hgvsp: ENST00000333535.4:c.5940C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5886C>G
  hgvsp: ENST00000425664.1:c.5886C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5937C>G
  hgvsp: ENST00000423572.2:c.5937C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5841C>G
  hgvsp: ENST00000455624.2:c.5841C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5778C>G
  hgvsp: ENST00000451551.2:c.5778C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5886C>G
  hgvsp: ENST00000414099.2:c.5886C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21262
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val1980Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/3-38591925-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591925
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591925
    reference: chr 3
allele count: 3
allele frequency: 2.686631322539046e-5
allele num: 111664
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5935G>T
  hgvsp: ENSP00000398266.2:p.Val1979Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5935G>T
  hgvsp: ENSP00000397915.1:p.Val1979Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5776G>T
  hgvsp: ENSP00000413996.2:p.Val1926Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5938G>T
  hgvsp: ENSP00000328968.4:p.Val1980Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5776G>T
  hgvsp: ENSP00000388797.2:p.Val1926Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5938G>T
  hgvsp: ENSP00000410257.1:p.Val1980Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5776G>T
  hgvsp: ENSP00000403355.2:p.Val1926Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5884G>T
  hgvsp: ENSP00000398962.2:p.Val1962Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5884G>T
  hgvsp: ENSP00000416634.1:p.Val1962Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5839G>T
  hgvsp: ENSP00000399524.2:p.Val1947Phe
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val1980Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

3-38591929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591929
    reference: chr 3
allele count: 1
allele frequency: 8.93415527561869e-6
allele num: 111930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5772C>T
  hgvsp: ENST00000450102.2:c.5772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5934C>T
  hgvsp: ENST00000333535.4:c.5934C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5772C>T
  hgvsp: ENST00000451551.2:c.5772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5934C>T
  hgvsp: ENST00000413689.1:c.5934C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5880C>T
  hgvsp: ENST00000414099.2:c.5880C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5772C>T
  hgvsp: ENST00000449557.2:c.5772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5931C>T
  hgvsp: ENST00000423572.2:c.5931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5835C>T
  hgvsp: ENST00000455624.2:c.5835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5931C>T
  hgvsp: ENST00000443581.1:c.5931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5880C>T
  hgvsp: ENST00000425664.1:c.5880C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp1978Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-38591931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591931
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591931
    reference: chr 3
allele count: 5
allele frequency: 4.472591956490625e-5
allele num: 111792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5770G>C
  hgvsp: ENSP00000403355.2:p.Asp1924His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5929G>C
  hgvsp: ENSP00000397915.1:p.Asp1977His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5932G>C
  hgvsp: ENSP00000410257.1:p.Asp1978His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5833G>C
  hgvsp: ENSP00000399524.2:p.Asp1945His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5878G>C
  hgvsp: ENSP00000416634.1:p.Asp1960His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5878G>C
  hgvsp: ENSP00000398962.2:p.Asp1960His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5932G>C
  hgvsp: ENSP00000328968.4:p.Asp1978His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5770G>C
  hgvsp: ENSP00000388797.2:p.Asp1924His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5929G>C
  hgvsp: ENSP00000398266.2:p.Asp1977His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5770G>C
  hgvsp: ENSP00000413996.2:p.Asp1924His
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5622
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp1978His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-38591946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591946
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591946
    reference: chr 3
allele count: 2
allele frequency: 1.774024729904735e-5
allele num: 112738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5863T>C
  hgvsp: ENSP00000398962.2:p.Phe1955Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5755T>C
  hgvsp: ENSP00000388797.2:p.Phe1919Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5917T>C
  hgvsp: ENSP00000328968.4:p.Phe1973Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5914T>C
  hgvsp: ENSP00000397915.1:p.Phe1972Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5863T>C
  hgvsp: ENSP00000416634.1:p.Phe1955Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5914T>C
  hgvsp: ENSP00000398266.2:p.Phe1972Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5755T>C
  hgvsp: ENSP00000403355.2:p.Phe1919Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5917T>C
  hgvsp: ENSP00000410257.1:p.Phe1973Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5818T>C
  hgvsp: ENSP00000399524.2:p.Phe1940Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5755T>C
  hgvsp: ENSP00000413996.2:p.Phe1919Leu
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe1973Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

3-38591950-AGTGGAGGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591950
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591941
    reference: chr 3
allele count: 1
allele frequency: 8.857395925597874e-6
allele num: 112900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsp: ENSP00000398266.2:p.Ser1969_Ser1971del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsp: ENSP00000410257.1:p.Ser1970_Ser1972del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsp: ENSP00000399524.2:p.Ser1937_Ser1939del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsp: ENSP00000413996.2:p.Ser1916_Ser1918del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsp: ENSP00000403355.2:p.Ser1916_Ser1918del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsp: ENSP00000388797.2:p.Ser1916_Ser1918del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsp: ENSP00000398962.2:p.Ser1952_Ser1954del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsp: ENSP00000328968.4:p.Ser1970_Ser1972del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsp: ENSP00000397915.1:p.Ser1969_Ser1971del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsp: ENSP00000416634.1:p.Ser1952_Ser1954del
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1970_Ser1972del
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: AGTGGAGGAG
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-38591957-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591957
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591957
    reference: chr 3
allele count: 1
allele frequency: 8.843609607697478e-6
allele num: 113076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5906C>T
  hgvsp: ENSP00000410257.1:p.Ser1969Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5852C>T
  hgvsp: ENSP00000398962.2:p.Ser1951Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5744C>T
  hgvsp: ENSP00000388797.2:p.Ser1915Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5903C>T
  hgvsp: ENSP00000397915.1:p.Ser1968Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5744C>T
  hgvsp: ENSP00000413996.2:p.Ser1915Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5852C>T
  hgvsp: ENSP00000416634.1:p.Ser1951Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5906C>T
  hgvsp: ENSP00000328968.4:p.Ser1969Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5744C>T
  hgvsp: ENSP00000403355.2:p.Ser1915Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5903C>T
  hgvsp: ENSP00000398266.2:p.Ser1968Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5807C>T
  hgvsp: ENSP00000399524.2:p.Ser1936Phe
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12740
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser1969Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-38591959-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591959
    reference: chr 3
allele count: 3
allele frequency: 2.65041081367612e-5
allele num: 113190
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5742C>G
  hgvsp: ENSP00000413996.2:p.Ile1914Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5904C>G
  hgvsp: ENSP00000328968.4:p.Ile1968Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5904C>G
  hgvsp: ENSP00000410257.1:p.Ile1968Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5901C>G
  hgvsp: ENSP00000397915.1:p.Ile1967Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5901C>G
  hgvsp: ENSP00000398266.2:p.Ile1967Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5742C>G
  hgvsp: ENSP00000388797.2:p.Ile1914Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5805C>G
  hgvsp: ENSP00000399524.2:p.Ile1935Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5742C>G
  hgvsp: ENSP00000403355.2:p.Ile1914Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5850C>G
  hgvsp: ENSP00000416634.1:p.Ile1950Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5850C>G
  hgvsp: ENSP00000398962.2:p.Ile1950Met
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1968Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-38591960-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591960
    reference: chr 3
allele count: 3
allele frequency: 2.651769614255914e-5
allele num: 113132
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5741T>G
  hgvsp: ENSP00000403355.2:p.Ile1914Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5903T>G
  hgvsp: ENSP00000328968.4:p.Ile1968Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5903T>G
  hgvsp: ENSP00000410257.1:p.Ile1968Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5900T>G
  hgvsp: ENSP00000398266.2:p.Ile1967Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5804T>G
  hgvsp: ENSP00000399524.2:p.Ile1935Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5900T>G
  hgvsp: ENSP00000397915.1:p.Ile1967Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5741T>G
  hgvsp: ENSP00000413996.2:p.Ile1914Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5849T>G
  hgvsp: ENSP00000416634.1:p.Ile1950Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5849T>G
  hgvsp: ENSP00000398962.2:p.Ile1950Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5741T>G
  hgvsp: ENSP00000388797.2:p.Ile1914Ser
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1968Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

3-38591960-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591960
    reference: chr 3
allele count: 1
allele frequency: 8.839232047519711e-6
allele num: 113132
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5849T>A
  hgvsp: ENSP00000416634.1:p.Ile1950Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5900T>A
  hgvsp: ENSP00000398266.2:p.Ile1967Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5903T>A
  hgvsp: ENSP00000410257.1:p.Ile1968Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5900T>A
  hgvsp: ENSP00000397915.1:p.Ile1967Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5849T>A
  hgvsp: ENSP00000398962.2:p.Ile1950Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5741T>A
  hgvsp: ENSP00000413996.2:p.Ile1914Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5741T>A
  hgvsp: ENSP00000388797.2:p.Ile1914Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5741T>A
  hgvsp: ENSP00000403355.2:p.Ile1914Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5804T>A
  hgvsp: ENSP00000399524.2:p.Ile1935Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5903T>A
  hgvsp: ENSP00000328968.4:p.Ile1968Asn
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile1968Asn
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-38591961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591961
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591961
    reference: chr 3
allele count: 1
allele frequency: 8.854258898530193e-6
allele num: 112940
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5902A>G
  hgvsp: ENSP00000410257.1:p.Ile1968Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5803A>G
  hgvsp: ENSP00000399524.2:p.Ile1935Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5899A>G
  hgvsp: ENSP00000397915.1:p.Ile1967Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5740A>G
  hgvsp: ENSP00000388797.2:p.Ile1914Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5899A>G
  hgvsp: ENSP00000398266.2:p.Ile1967Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5740A>G
  hgvsp: ENSP00000413996.2:p.Ile1914Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5848A>G
  hgvsp: ENSP00000416634.1:p.Ile1950Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5740A>G
  hgvsp: ENSP00000403355.2:p.Ile1914Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5848A>G
  hgvsp: ENSP00000398962.2:p.Ile1950Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5902A>G
  hgvsp: ENSP00000328968.4:p.Ile1968Val
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile1968Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-38591970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591970
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591970
    reference: chr 3
allele count: 1
allele frequency: 8.82861885086697e-6
allele num: 113268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5893A>G
  hgvsp: ENSP00000328968.4:p.Ser1965Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5893A>G
  hgvsp: ENSP00000410257.1:p.Ser1965Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5731A>G
  hgvsp: ENSP00000413996.2:p.Ser1911Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5731A>G
  hgvsp: ENSP00000403355.2:p.Ser1911Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5890A>G
  hgvsp: ENSP00000398266.2:p.Ser1964Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5839A>G
  hgvsp: ENSP00000398962.2:p.Ser1947Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5794A>G
  hgvsp: ENSP00000399524.2:p.Ser1932Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5890A>G
  hgvsp: ENSP00000397915.1:p.Ser1964Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5839A>G
  hgvsp: ENSP00000416634.1:p.Ser1947Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5731A>G
  hgvsp: ENSP00000388797.2:p.Ser1911Gly
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser1965Gly
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: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-38591972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591972
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591972
    reference: chr 3
allele count: 4
allele frequency: 3.525409388165201e-5
allele num: 113462
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5891C>T
  hgvsp: ENSP00000410257.1:p.Ser1964Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5888C>T
  hgvsp: ENSP00000397915.1:p.Ser1963Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5729C>T
  hgvsp: ENSP00000413996.2:p.Ser1910Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5729C>T
  hgvsp: ENSP00000388797.2:p.Ser1910Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5837C>T
  hgvsp: ENSP00000398962.2:p.Ser1946Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5891C>T
  hgvsp: ENSP00000328968.4:p.Ser1964Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5888C>T
  hgvsp: ENSP00000398266.2:p.Ser1963Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5729C>T
  hgvsp: ENSP00000403355.2:p.Ser1910Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5792C>T
  hgvsp: ENSP00000399524.2:p.Ser1931Phe
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5837C>T
  hgvsp: ENSP00000416634.1:p.Ser1946Phe
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9589
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4623
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1964Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-38591975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591975
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591975
    reference: chr 3
allele count: 1
allele frequency: 8.820986892013479e-6
allele num: 113366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5885C>T
  hgvsp: ENSP00000397915.1:p.Pro1962Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5726C>T
  hgvsp: ENSP00000388797.2:p.Pro1909Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5834C>T
  hgvsp: ENSP00000416634.1:p.Pro1945Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5726C>T
  hgvsp: ENSP00000403355.2:p.Pro1909Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5888C>T
  hgvsp: ENSP00000410257.1:p.Pro1963Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5726C>T
  hgvsp: ENSP00000413996.2:p.Pro1909Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5789C>T
  hgvsp: ENSP00000399524.2:p.Pro1930Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5885C>T
  hgvsp: ENSP00000398266.2:p.Pro1962Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5834C>T
  hgvsp: ENSP00000398962.2:p.Pro1945Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5888C>T
  hgvsp: ENSP00000328968.4:p.Pro1963Leu
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro1963Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-38591978-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591978
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591978
    reference: chr 3
allele count: 17
allele frequency: 1.5001500150015e-4
allele num: 113322
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5786C>T
  hgvsp: ENSP00000399524.2:p.Pro1929Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5831C>T
  hgvsp: ENSP00000398962.2:p.Pro1944Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5882C>T
  hgvsp: ENSP00000397915.1:p.Pro1961Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5831C>T
  hgvsp: ENSP00000416634.1:p.Pro1944Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5885C>T
  hgvsp: ENSP00000328968.4:p.Pro1962Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5885C>T
  hgvsp: ENSP00000410257.1:p.Pro1962Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5723C>T
  hgvsp: ENSP00000388797.2:p.Pro1908Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5882C>T
  hgvsp: ENSP00000398266.2:p.Pro1961Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5723C>T
  hgvsp: ENSP00000403355.2:p.Pro1908Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5723C>T
  hgvsp: ENSP00000413996.2:p.Pro1908Leu
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4482
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16673
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5826
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro1962Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

3-38591990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591990
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591990
    reference: chr 3
allele count: 7
allele frequency: 6.181452111407428e-5
allele num: 113242
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5873G>A
  hgvsp: ENSP00000328968.4:p.Arg1958Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5711G>A
  hgvsp: ENSP00000403355.2:p.Arg1904Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5870G>A
  hgvsp: ENSP00000398266.2:p.Arg1957Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5819G>A
  hgvsp: ENSP00000398962.2:p.Arg1940Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5870G>A
  hgvsp: ENSP00000397915.1:p.Arg1957Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5774G>A
  hgvsp: ENSP00000399524.2:p.Arg1925Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5873G>A
  hgvsp: ENSP00000410257.1:p.Arg1958Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5711G>A
  hgvsp: ENSP00000388797.2:p.Arg1904Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5711G>A
  hgvsp: ENSP00000413996.2:p.Arg1904Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5819G>A
  hgvsp: ENSP00000416634.1:p.Arg1940Gln
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14669
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg1958Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-38591991-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591991
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591991
    reference: chr 3
allele count: 8
allele frequency: 7.039155301363837e-5
allele num: 113650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5872C>T
  hgvsp: ENSP00000328968.4:p.Arg1958Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5818C>T
  hgvsp: ENSP00000416634.1:p.Arg1940Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5773C>T
  hgvsp: ENSP00000399524.2:p.Arg1925Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5869C>T
  hgvsp: ENSP00000397915.1:p.Arg1957Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5710C>T
  hgvsp: ENSP00000413996.2:p.Arg1904Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5869C>T
  hgvsp: ENSP00000398266.2:p.Arg1957Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5710C>T
  hgvsp: ENSP00000403355.2:p.Arg1904Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5818C>T
  hgvsp: ENSP00000398962.2:p.Arg1940Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5872C>T
  hgvsp: ENSP00000410257.1:p.Arg1958Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5710C>T
  hgvsp: ENSP00000388797.2:p.Arg1904Ter
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7297
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8604
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg1958Ter
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

3-38591992-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591992
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591992
    reference: chr 3
allele count: 2
allele frequency: 1.753002015952318e-5
allele num: 114090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5817C>G
  hgvsp: ENST00000414099.2:c.5817C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5817C>G
  hgvsp: ENST00000425664.1:c.5817C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5868C>G
  hgvsp: ENST00000423572.2:c.5868C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5871C>G
  hgvsp: ENST00000413689.1:c.5871C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5709C>G
  hgvsp: ENST00000451551.2:c.5709C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5871C>G
  hgvsp: ENST00000333535.4:c.5871C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5868C>G
  hgvsp: ENST00000443581.1:c.5868C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5709C>G
  hgvsp: ENST00000449557.2:c.5709C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5772C>G
  hgvsp: ENST00000455624.2:c.5772C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5709C>G
  hgvsp: ENST00000450102.2:c.5709C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12894
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14402
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1957Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

3-38591994-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591994
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591994
    reference: chr 3
allele count: 1
allele frequency: 8.753654650816716e-6
allele num: 114238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5869T>C
  hgvsp: ENSP00000328968.4:p.Ser1957Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5866T>C
  hgvsp: ENSP00000398266.2:p.Ser1956Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5707T>C
  hgvsp: ENSP00000388797.2:p.Ser1903Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5869T>C
  hgvsp: ENSP00000410257.1:p.Ser1957Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5815T>C
  hgvsp: ENSP00000398962.2:p.Ser1939Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5815T>C
  hgvsp: ENSP00000416634.1:p.Ser1939Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5707T>C
  hgvsp: ENSP00000413996.2:p.Ser1903Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5866T>C
  hgvsp: ENSP00000397915.1:p.Ser1956Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5770T>C
  hgvsp: ENSP00000399524.2:p.Ser1924Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5707T>C
  hgvsp: ENSP00000403355.2:p.Ser1903Pro
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5512
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser1957Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-38591998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38591998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591998
    reference: chr 3
allele count: 1
allele frequency: 8.718395815170008e-6
allele num: 114700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5862C>T
  hgvsp: ENST00000443581.1:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5703C>T
  hgvsp: ENST00000450102.2:c.5703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5862C>T
  hgvsp: ENST00000423572.2:c.5862C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5811C>T
  hgvsp: ENST00000425664.1:c.5811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5703C>T
  hgvsp: ENST00000451551.2:c.5703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5766C>T
  hgvsp: ENST00000455624.2:c.5766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5703C>T
  hgvsp: ENST00000449557.2:c.5703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5865C>T
  hgvsp: ENST00000413689.1:c.5865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5811C>T
  hgvsp: ENST00000414099.2:c.5811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5865C>T
  hgvsp: ENST00000333535.4:c.5865C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13998
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn1955Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-38592000-TCTCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38591996
    reference: chr 3
allele count: 1
allele frequency: 8.719460091031163e-6
allele num: 114686
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5856_5859delTGAG
  hgvsp: ENSP00000397915.1:p.Ser1952ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5856_5859delTGAG
  hgvsp: ENSP00000398266.2:p.Ser1952ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5760_5763delTGAG
  hgvsp: ENSP00000399524.2:p.Ser1920ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5805_5808delTGAG
  hgvsp: ENSP00000416634.1:p.Ser1935ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5805_5808delTGAG
  hgvsp: ENSP00000398962.2:p.Ser1935ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5697_5700delTGAG
  hgvsp: ENSP00000403355.2:p.Ser1899ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5697_5700delTGAG
  hgvsp: ENSP00000413996.2:p.Ser1899ArgfsTer?
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5697_5700delTGAG
  hgvsp: ENSP00000388797.2:p.Ser1899ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5859_5862delTGAG
  hgvsp: ENSP00000410257.1:p.Ser1953ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5859_5862delTGAG
  hgvsp: ENSP00000328968.4:p.Ser1953ArgfsTer84
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14173
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser1953ArgfsTer84
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: TCTCA
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-38592003-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592003
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592003
    reference: chr 3
allele count: 4
allele frequency: 3.479652730657481e-5
allele num: 114954
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5761G>A
  hgvsp: ENSP00000399524.2:p.Glu1921Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5806G>A
  hgvsp: ENSP00000416634.1:p.Glu1936Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5698G>A
  hgvsp: ENSP00000388797.2:p.Glu1900Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5860G>A
  hgvsp: ENSP00000410257.1:p.Glu1954Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5698G>A
  hgvsp: ENSP00000403355.2:p.Glu1900Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5857G>A
  hgvsp: ENSP00000398266.2:p.Glu1953Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5860G>A
  hgvsp: ENSP00000328968.4:p.Glu1954Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5857G>A
  hgvsp: ENSP00000397915.1:p.Glu1953Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5806G>A
  hgvsp: ENSP00000398962.2:p.Glu1936Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5698G>A
  hgvsp: ENSP00000413996.2:p.Glu1900Lys
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14431
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1954Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-38592012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592012
    reference: chr 3
allele count: 627
allele frequency: 5.411984048889119e-3
allele num: 115854
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5851G>T
  hgvsp: ENSP00000410257.1:p.Val1951Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5752G>T
  hgvsp: ENSP00000399524.2:p.Val1918Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5848G>T
  hgvsp: ENSP00000397915.1:p.Val1950Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5689G>T
  hgvsp: ENSP00000403355.2:p.Val1897Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5797G>T
  hgvsp: ENSP00000416634.1:p.Val1933Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5851G>T
  hgvsp: ENSP00000328968.4:p.Val1951Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5848G>T
  hgvsp: ENSP00000398266.2:p.Val1950Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5797G>T
  hgvsp: ENSP00000398962.2:p.Val1933Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5689G>T
  hgvsp: ENSP00000413996.2:p.Val1897Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5689G>T
  hgvsp: ENSP00000388797.2:p.Val1897Leu
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 1.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 3.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 2.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6514
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Val1951Leu
num of homozygotes: 6
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

3-38592012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592012
    reference: chr 3
allele count: 10
allele frequency: 8.63155350700019e-5
allele num: 115854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5797G>A
  hgvsp: ENSP00000398962.2:p.Val1933Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5851G>A
  hgvsp: ENSP00000328968.4:p.Val1951Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5851G>A
  hgvsp: ENSP00000410257.1:p.Val1951Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5689G>A
  hgvsp: ENSP00000413996.2:p.Val1897Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5848G>A
  hgvsp: ENSP00000397915.1:p.Val1950Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5797G>A
  hgvsp: ENSP00000416634.1:p.Val1933Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5752G>A
  hgvsp: ENSP00000399524.2:p.Val1918Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5689G>A
  hgvsp: ENSP00000403355.2:p.Val1897Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5689G>A
  hgvsp: ENSP00000388797.2:p.Val1897Met
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5848G>A
  hgvsp: ENSP00000398266.2:p.Val1950Met
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13960
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8371
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1951Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

3-38592013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592013
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592013
    reference: chr 3
allele count: 3
allele frequency: 2.580423189403062e-5
allele num: 116260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5847C>T
  hgvsp: ENST00000443581.1:c.5847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5796C>T
  hgvsp: ENST00000425664.1:c.5796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5847C>T
  hgvsp: ENST00000423572.2:c.5847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5688C>T
  hgvsp: ENST00000449557.2:c.5688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5850C>T
  hgvsp: ENST00000333535.4:c.5850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5688C>T
  hgvsp: ENST00000451551.2:c.5688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5796C>T
  hgvsp: ENST00000414099.2:c.5796C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5850C>T
  hgvsp: ENST00000413689.1:c.5850C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5688C>T
  hgvsp: ENST00000450102.2:c.5688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5751C>T
  hgvsp: ENST00000455624.2:c.5751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8411
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr1950Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-38592018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592018
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592018
    reference: chr 3
allele count: 2
allele frequency: 1.715766175385619e-5
allele num: 116566
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5746G>A
  hgvsp: ENSP00000399524.2:p.Ala1916Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5842G>A
  hgvsp: ENSP00000397915.1:p.Ala1948Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5845G>A
  hgvsp: ENSP00000410257.1:p.Ala1949Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5683G>A
  hgvsp: ENSP00000388797.2:p.Ala1895Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5791G>A
  hgvsp: ENSP00000416634.1:p.Ala1931Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5683G>A
  hgvsp: ENSP00000403355.2:p.Ala1895Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5791G>A
  hgvsp: ENSP00000398962.2:p.Ala1931Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5842G>A
  hgvsp: ENSP00000398266.2:p.Ala1948Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5683G>A
  hgvsp: ENSP00000413996.2:p.Ala1895Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5845G>A
  hgvsp: ENSP00000328968.4:p.Ala1949Thr
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16664
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1949Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ

3-38592019-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592019
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592019
    reference: chr 3
allele count: 2268
allele frequency: 1.939555646775104e-2
allele num: 116934
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5790C>T
  hgvsp: ENST00000425664.1:c.5790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5844C>T
  hgvsp: ENST00000333535.4:c.5844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5682C>T
  hgvsp: ENST00000450102.2:c.5682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5682C>T
  hgvsp: ENST00000449557.2:c.5682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5841C>T
  hgvsp: ENST00000443581.1:c.5841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5844C>T
  hgvsp: ENST00000413689.1:c.5844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5790C>T
  hgvsp: ENST00000414099.2:c.5790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5841C>T
  hgvsp: ENST00000423572.2:c.5841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5682C>T
  hgvsp: ENST00000451551.2:c.5682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5745C>T
  hgvsp: ENST00000455624.2:c.5745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 1.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 1.75e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 14241
  bin: 2.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 3.25e1
  variant carriers: 273
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 3.75e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17010
  bin: 2.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 4.25e1
  variant carriers: 126
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
hgvs: p.Ile1948Ile
num of homozygotes: 229
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-38592021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592021
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592021
    reference: chr 3
allele count: 1
allele frequency: 8.525439912699495e-6
allele num: 117296
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5842A>G
  hgvsp: ENSP00000410257.1:p.Ile1948Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5839A>G
  hgvsp: ENSP00000398266.2:p.Ile1947Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5680A>G
  hgvsp: ENSP00000403355.2:p.Ile1894Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5680A>G
  hgvsp: ENSP00000388797.2:p.Ile1894Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5839A>G
  hgvsp: ENSP00000397915.1:p.Ile1947Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5788A>G
  hgvsp: ENSP00000398962.2:p.Ile1930Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5743A>G
  hgvsp: ENSP00000399524.2:p.Ile1915Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5788A>G
  hgvsp: ENSP00000416634.1:p.Ile1930Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5842A>G
  hgvsp: ENSP00000328968.4:p.Ile1948Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5680A>G
  hgvsp: ENSP00000413996.2:p.Ile1894Val
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1948Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

3-38592025-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592025
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592025
    reference: chr 3
allele count: 1
allele frequency: 8.51643672287515e-6
allele num: 117420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5838C>A
  hgvsp: ENST00000413689.1:c.5838C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5835C>A
  hgvsp: ENST00000423572.2:c.5835C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5676C>A
  hgvsp: ENST00000450102.2:c.5676C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5784C>A
  hgvsp: ENST00000414099.2:c.5784C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5835C>A
  hgvsp: ENST00000443581.1:c.5835C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5676C>A
  hgvsp: ENST00000449557.2:c.5676C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5838C>A
  hgvsp: ENST00000333535.4:c.5838C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5739C>A
  hgvsp: ENST00000455624.2:c.5739C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5784C>A
  hgvsp: ENST00000425664.1:c.5784C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5676C>A
  hgvsp: ENST00000451551.2:c.5676C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1946Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-38592032-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592032
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592032
    reference: chr 3
allele count: 2
allele frequency: 1.69419737399407e-5
allele num: 118050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5828G>A
  hgvsp: ENSP00000397915.1:p.Arg1943Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5732G>A
  hgvsp: ENSP00000399524.2:p.Arg1911Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5777G>A
  hgvsp: ENSP00000398962.2:p.Arg1926Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5831G>A
  hgvsp: ENSP00000410257.1:p.Arg1944Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5777G>A
  hgvsp: ENSP00000416634.1:p.Arg1926Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5669G>A
  hgvsp: ENSP00000388797.2:p.Arg1890Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5669G>A
  hgvsp: ENSP00000413996.2:p.Arg1890Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5828G>A
  hgvsp: ENSP00000398266.2:p.Arg1943Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5831G>A
  hgvsp: ENSP00000328968.4:p.Arg1944Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5669G>A
  hgvsp: ENSP00000403355.2:p.Arg1890Gln
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4579
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg1944Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum

3-38592037-AGGGGCATCCTCTTCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592037
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592022
    reference: chr 3
allele count: 1
allele frequency: 8.43497477942541e-6
allele num: 118554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsp: ENSP00000399524.2:p.Glu1906_Glu1910del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsp: ENSP00000413996.2:p.Glu1885_Glu1889del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsp: ENSP00000397915.1:p.Glu1938_Glu1942del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsp: ENSP00000410257.1:p.Glu1939_Glu1943del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsp: ENSP00000328968.4:p.Glu1939_Glu1943del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsp: ENSP00000416634.1:p.Glu1921_Glu1925del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsp: ENSP00000398962.2:p.Glu1921_Glu1925del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsp: ENSP00000403355.2:p.Glu1885_Glu1889del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsp: ENSP00000398266.2:p.Glu1938_Glu1942del
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsp: ENSP00000388797.2:p.Glu1885_Glu1889del
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu1939_Glu1943del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: AGGGGCATCCTCTTCG
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-38592039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592039
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592039
    reference: chr 3
allele count: 1
allele frequency: 8.429286713758282e-6
allele num: 118634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5662C>T
  hgvsp: ENSP00000413996.2:p.Pro1888Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5824C>T
  hgvsp: ENSP00000328968.4:p.Pro1942Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5662C>T
  hgvsp: ENSP00000403355.2:p.Pro1888Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5770C>T
  hgvsp: ENSP00000398962.2:p.Pro1924Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5725C>T
  hgvsp: ENSP00000399524.2:p.Pro1909Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5770C>T
  hgvsp: ENSP00000416634.1:p.Pro1924Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5821C>T
  hgvsp: ENSP00000397915.1:p.Pro1941Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5821C>T
  hgvsp: ENSP00000398266.2:p.Pro1941Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5662C>T
  hgvsp: ENSP00000388797.2:p.Pro1888Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5824C>T
  hgvsp: ENSP00000410257.1:p.Pro1942Ser
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1942Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-38592051-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592051
    reference: chr 3
allele count: 1
allele frequency: 8.396164631996104e-6
allele num: 119102
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5650G>T
  hgvsp: ENSP00000388797.2:p.Glu1884Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5809G>T
  hgvsp: ENSP00000398266.2:p.Glu1937Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5650G>T
  hgvsp: ENSP00000413996.2:p.Glu1884Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5758G>T
  hgvsp: ENSP00000398962.2:p.Glu1920Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5713G>T
  hgvsp: ENSP00000399524.2:p.Glu1905Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5650G>T
  hgvsp: ENSP00000403355.2:p.Glu1884Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5809G>T
  hgvsp: ENSP00000397915.1:p.Glu1937Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5812G>T
  hgvsp: ENSP00000410257.1:p.Glu1938Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5812G>T
  hgvsp: ENSP00000328968.4:p.Glu1938Ter
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5758G>T
  hgvsp: ENSP00000416634.1:p.Glu1920Ter
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16809
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1938Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

3-38592051-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592051
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592051
    reference: chr 3
allele count: 1
allele frequency: 8.396164631996104e-6
allele num: 119102
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5713G>A
  hgvsp: ENSP00000399524.2:p.Glu1905Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5758G>A
  hgvsp: ENSP00000416634.1:p.Glu1920Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5650G>A
  hgvsp: ENSP00000388797.2:p.Glu1884Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5812G>A
  hgvsp: ENSP00000328968.4:p.Glu1938Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5809G>A
  hgvsp: ENSP00000397915.1:p.Glu1937Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5812G>A
  hgvsp: ENSP00000410257.1:p.Glu1938Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5809G>A
  hgvsp: ENSP00000398266.2:p.Glu1937Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5758G>A
  hgvsp: ENSP00000398962.2:p.Glu1920Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5650G>A
  hgvsp: ENSP00000403355.2:p.Glu1884Lys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5650G>A
  hgvsp: ENSP00000413996.2:p.Glu1884Lys
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19388
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1938Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-38592052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592052
    reference: chr 3
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5811C>T
  hgvsp: ENST00000413689.1:c.5811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5757C>T
  hgvsp: ENST00000414099.2:c.5757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5757C>T
  hgvsp: ENST00000425664.1:c.5757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5712C>T
  hgvsp: ENST00000455624.2:c.5712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5808C>T
  hgvsp: ENST00000423572.2:c.5808C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5808C>T
  hgvsp: ENST00000443581.1:c.5808C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5811C>T
  hgvsp: ENST00000333535.4:c.5811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5649C>T
  hgvsp: ENST00000450102.2:c.5649C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5649C>T
  hgvsp: ENST00000451551.2:c.5649C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5649C>T
  hgvsp: ENST00000449557.2:c.5649C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser1937Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/3-38592054-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592054
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592054
    reference: chr 3
allele count: 1
allele frequency: 8.380403265005112e-6
allele num: 119326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5647T>G
  hgvsp: ENSP00000413996.2:p.Ser1883Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5806T>G
  hgvsp: ENSP00000398266.2:p.Ser1936Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5806T>G
  hgvsp: ENSP00000397915.1:p.Ser1936Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5647T>G
  hgvsp: ENSP00000403355.2:p.Ser1883Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5809T>G
  hgvsp: ENSP00000410257.1:p.Ser1937Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5647T>G
  hgvsp: ENSP00000388797.2:p.Ser1883Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5809T>G
  hgvsp: ENSP00000328968.4:p.Ser1937Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5755T>G
  hgvsp: ENSP00000416634.1:p.Ser1919Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5710T>G
  hgvsp: ENSP00000399524.2:p.Ser1904Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5755T>G
  hgvsp: ENSP00000398962.2:p.Ser1919Ala
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser1937Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

3-38592060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592060
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592060
    reference: chr 3
allele count: 2
allele frequency: 1.673024158468848e-5
allele num: 119544
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5641G>A
  hgvsp: ENSP00000413996.2:p.Gly1881Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5641G>A
  hgvsp: ENSP00000403355.2:p.Gly1881Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5803G>A
  hgvsp: ENSP00000410257.1:p.Gly1935Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5800G>A
  hgvsp: ENSP00000397915.1:p.Gly1934Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5749G>A
  hgvsp: ENSP00000398962.2:p.Gly1917Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5800G>A
  hgvsp: ENSP00000398266.2:p.Gly1934Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5704G>A
  hgvsp: ENSP00000399524.2:p.Gly1902Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5749G>A
  hgvsp: ENSP00000416634.1:p.Gly1917Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5641G>A
  hgvsp: ENSP00000388797.2:p.Gly1881Ser
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5803G>A
  hgvsp: ENSP00000328968.4:p.Gly1935Ser
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1935Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-38592061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592061
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592061
    reference: chr 3
allele count: 17
allele frequency: 1.421262080727686e-4
allele num: 119612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5703C>T
  hgvsp: ENST00000455624.2:c.5703C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5802C>T
  hgvsp: ENST00000413689.1:c.5802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5640C>T
  hgvsp: ENST00000449557.2:c.5640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5640C>T
  hgvsp: ENST00000451551.2:c.5640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5748C>T
  hgvsp: ENST00000425664.1:c.5748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5799C>T
  hgvsp: ENST00000443581.1:c.5799C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5640C>T
  hgvsp: ENST00000450102.2:c.5640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5748C>T
  hgvsp: ENST00000414099.2:c.5748C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5802C>T
  hgvsp: ENST00000333535.4:c.5802C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5799C>T
  hgvsp: ENST00000423572.2:c.5799C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17451
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19362
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3473
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1934Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-38592065-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592065
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592065
    reference: chr 3
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5798G>T
  hgvsp: ENSP00000410257.1:p.Gly1933Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5636G>T
  hgvsp: ENSP00000403355.2:p.Gly1879Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5699G>T
  hgvsp: ENSP00000399524.2:p.Gly1900Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5636G>T
  hgvsp: ENSP00000413996.2:p.Gly1879Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5744G>T
  hgvsp: ENSP00000416634.1:p.Gly1915Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5795G>T
  hgvsp: ENSP00000397915.1:p.Gly1932Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5636G>T
  hgvsp: ENSP00000388797.2:p.Gly1879Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5798G>T
  hgvsp: ENSP00000328968.4:p.Gly1933Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5744G>T
  hgvsp: ENSP00000398962.2:p.Gly1915Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5795G>T
  hgvsp: ENSP00000398266.2:p.Gly1932Val
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly1933Val
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: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP

3-38592065-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592065
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592065
    reference: chr 3
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5744G>C
  hgvsp: ENSP00000416634.1:p.Gly1915Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5636G>C
  hgvsp: ENSP00000388797.2:p.Gly1879Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5798G>C
  hgvsp: ENSP00000328968.4:p.Gly1933Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5636G>C
  hgvsp: ENSP00000403355.2:p.Gly1879Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5636G>C
  hgvsp: ENSP00000413996.2:p.Gly1879Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5699G>C
  hgvsp: ENSP00000399524.2:p.Gly1900Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5795G>C
  hgvsp: ENSP00000398266.2:p.Gly1932Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5798G>C
  hgvsp: ENSP00000410257.1:p.Gly1933Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5795G>C
  hgvsp: ENSP00000397915.1:p.Gly1932Ala
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5744G>C
  hgvsp: ENSP00000398962.2:p.Gly1915Ala
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1933Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-38592065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592065
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592065
    reference: chr 3
allele count: 1
allele frequency: 8.341675008341675e-6
allele num: 119880
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5798G>A
  hgvsp: ENSP00000410257.1:p.Gly1933Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5744G>A
  hgvsp: ENSP00000416634.1:p.Gly1915Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5636G>A
  hgvsp: ENSP00000413996.2:p.Gly1879Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5795G>A
  hgvsp: ENSP00000397915.1:p.Gly1932Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5798G>A
  hgvsp: ENSP00000328968.4:p.Gly1933Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5744G>A
  hgvsp: ENSP00000398962.2:p.Gly1915Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5636G>A
  hgvsp: ENSP00000388797.2:p.Gly1879Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5699G>A
  hgvsp: ENSP00000399524.2:p.Gly1900Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5795G>A
  hgvsp: ENSP00000398266.2:p.Gly1932Asp
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5636G>A
  hgvsp: ENSP00000403355.2:p.Gly1879Asp
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11361
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9294
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1933Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-38592067-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592067
    reference: chr 3
allele count: 2
allele frequency: 1.667278001934042e-5
allele num: 119956
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5634G>C
  hgvsp: ENST00000451551.2:c.5634G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5634G>C
  hgvsp: ENST00000449557.2:c.5634G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5697G>C
  hgvsp: ENST00000455624.2:c.5697G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5634G>C
  hgvsp: ENST00000450102.2:c.5634G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5793G>C
  hgvsp: ENST00000443581.1:c.5793G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5742G>C
  hgvsp: ENST00000425664.1:c.5742G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5742G>C
  hgvsp: ENST00000414099.2:c.5742G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5796G>C
  hgvsp: ENST00000413689.1:c.5796G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5796G>C
  hgvsp: ENST00000333535.4:c.5796G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5793G>C
  hgvsp: ENST00000423572.2:c.5793G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala1932Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-38592067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592067
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592067
    reference: chr 3
allele count: 47
allele frequency: 3.918103304545e-4
allele num: 119956
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5796G>A
  hgvsp: ENST00000333535.4:c.5796G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5793G>A
  hgvsp: ENST00000443581.1:c.5793G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5793G>A
  hgvsp: ENST00000423572.2:c.5793G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5697G>A
  hgvsp: ENST00000455624.2:c.5697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5796G>A
  hgvsp: ENST00000413689.1:c.5796G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5634G>A
  hgvsp: ENST00000451551.2:c.5634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5634G>A
  hgvsp: ENST00000450102.2:c.5634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5742G>A
  hgvsp: ENST00000414099.2:c.5742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5742G>A
  hgvsp: ENST00000425664.1:c.5742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5634G>A
  hgvsp: ENST00000449557.2:c.5634G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11443
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala1932Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-38592068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592068
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592068
    reference: chr 3
allele count: 8
allele frequency: 6.66566681664417e-5
allele num: 120018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5741C>T
  hgvsp: ENSP00000416634.1:p.Ala1914Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5792C>T
  hgvsp: ENSP00000397915.1:p.Ala1931Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5795C>T
  hgvsp: ENSP00000328968.4:p.Ala1932Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5633C>T
  hgvsp: ENSP00000388797.2:p.Ala1878Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5795C>T
  hgvsp: ENSP00000410257.1:p.Ala1932Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5633C>T
  hgvsp: ENSP00000413996.2:p.Ala1878Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5696C>T
  hgvsp: ENSP00000399524.2:p.Ala1899Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5633C>T
  hgvsp: ENSP00000403355.2:p.Ala1878Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5792C>T
  hgvsp: ENSP00000398266.2:p.Ala1931Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5741C>T
  hgvsp: ENSP00000398962.2:p.Ala1914Val
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17708
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala1932Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

3-38592077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592077
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592077
    reference: chr 3
allele count: 3
allele frequency: 2.492273950752667e-5
allele num: 120372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5624G>A
  hgvsp: ENSP00000388797.2:p.Arg1875His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5732G>A
  hgvsp: ENSP00000398962.2:p.Arg1911His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5783G>A
  hgvsp: ENSP00000397915.1:p.Arg1928His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5732G>A
  hgvsp: ENSP00000416634.1:p.Arg1911His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5786G>A
  hgvsp: ENSP00000328968.4:p.Arg1929His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5687G>A
  hgvsp: ENSP00000399524.2:p.Arg1896His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5783G>A
  hgvsp: ENSP00000398266.2:p.Arg1928His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5624G>A
  hgvsp: ENSP00000403355.2:p.Arg1875His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5786G>A
  hgvsp: ENSP00000410257.1:p.Arg1929His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5624G>A
  hgvsp: ENSP00000413996.2:p.Arg1875His
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9466
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg1929His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

3-38592078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592078
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592078
    reference: chr 3
allele count: 2
allele frequency: 1.661074382910867e-5
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5623C>T
  hgvsp: ENSP00000388797.2:p.Arg1875Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5731C>T
  hgvsp: ENSP00000416634.1:p.Arg1911Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5623C>T
  hgvsp: ENSP00000403355.2:p.Arg1875Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5686C>T
  hgvsp: ENSP00000399524.2:p.Arg1896Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5623C>T
  hgvsp: ENSP00000413996.2:p.Arg1875Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5785C>T
  hgvsp: ENSP00000410257.1:p.Arg1929Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5731C>T
  hgvsp: ENSP00000398962.2:p.Arg1911Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5782C>T
  hgvsp: ENSP00000398266.2:p.Arg1928Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5782C>T
  hgvsp: ENSP00000397915.1:p.Arg1928Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5785C>T
  hgvsp: ENSP00000328968.4:p.Arg1929Cys
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5035
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1929Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-38592088-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592088
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592088
    reference: chr 3
allele count: 13
allele frequency: 1.078104526380388e-4
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5775C>G
  hgvsp: ENST00000413689.1:c.5775C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5613C>G
  hgvsp: ENST00000449557.2:c.5613C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5775C>G
  hgvsp: ENST00000333535.4:c.5775C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5772C>G
  hgvsp: ENST00000423572.2:c.5772C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5613C>G
  hgvsp: ENST00000451551.2:c.5613C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5772C>G
  hgvsp: ENST00000443581.1:c.5772C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5676C>G
  hgvsp: ENST00000455624.2:c.5676C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5613C>G
  hgvsp: ENST00000450102.2:c.5613C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5721C>G
  hgvsp: ENST00000425664.1:c.5721C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5721C>G
  hgvsp: ENST00000414099.2:c.5721C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser1925Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-38592091-G-GGCAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592091
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592095
    reference: chr 3
allele count: 7
allele frequency: 5.803541818664191e-5
allele num: 120616
alternate allele: GGCAT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5765_5768dupATGC
  hgvsp: ENSP00000397915.1:p.Ser1924CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5669_5672dupATGC
  hgvsp: ENSP00000399524.2:p.Ser1892CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5768_5771dupATGC
  hgvsp: ENSP00000410257.1:p.Ser1925CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5606_5609dupATGC
  hgvsp: ENSP00000403355.2:p.Ser1871CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5765_5768dupATGC
  hgvsp: ENSP00000398266.2:p.Ser1924CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5714_5717dupATGC
  hgvsp: ENSP00000416634.1:p.Ser1907CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5768_5771dupATGC
  hgvsp: ENSP00000328968.4:p.Ser1925CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5606_5609dupATGC
  hgvsp: ENSP00000388797.2:p.Ser1871CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5606_5609dupATGC
  hgvsp: ENSP00000413996.2:p.Ser1871CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5714_5717dupATGC
  hgvsp: ENSP00000398962.2:p.Ser1907CysfsTer20
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1925CysfsTer20
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

3-38592093-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592093
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592093
    reference: chr 3
allele count: 5
allele frequency: 4.143944040179681e-5
allele num: 120658
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5671G>A
  hgvsp: ENSP00000399524.2:p.Ala1891Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5770G>A
  hgvsp: ENSP00000410257.1:p.Ala1924Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5767G>A
  hgvsp: ENSP00000398266.2:p.Ala1923Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5767G>A
  hgvsp: ENSP00000397915.1:p.Ala1923Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5770G>A
  hgvsp: ENSP00000328968.4:p.Ala1924Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5608G>A
  hgvsp: ENSP00000413996.2:p.Ala1870Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5716G>A
  hgvsp: ENSP00000398962.2:p.Ala1906Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5716G>A
  hgvsp: ENSP00000416634.1:p.Ala1906Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5608G>A
  hgvsp: ENSP00000388797.2:p.Ala1870Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5608G>A
  hgvsp: ENSP00000403355.2:p.Ala1870Thr
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1924Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

3-38592096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592096
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592096
    reference: chr 3
allele count: 1
allele frequency: 8.285004142502071e-6
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5764C>T
  hgvsp: ENSP00000398266.2:p.His1922Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5713C>T
  hgvsp: ENSP00000398962.2:p.His1905Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5605C>T
  hgvsp: ENSP00000413996.2:p.His1869Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5767C>T
  hgvsp: ENSP00000410257.1:p.His1923Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5605C>T
  hgvsp: ENSP00000403355.2:p.His1869Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5713C>T
  hgvsp: ENSP00000416634.1:p.His1905Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5764C>T
  hgvsp: ENSP00000397915.1:p.His1922Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5767C>T
  hgvsp: ENSP00000328968.4:p.His1923Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5668C>T
  hgvsp: ENSP00000399524.2:p.His1890Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5605C>T
  hgvsp: ENSP00000388797.2:p.His1869Tyr
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His1923Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-38592097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592097
    reference: chr 3
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5766G>A
  hgvsp: ENST00000413689.1:c.5766G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5604G>A
  hgvsp: ENST00000451551.2:c.5604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5763G>A
  hgvsp: ENST00000423572.2:c.5763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5766G>A
  hgvsp: ENST00000333535.4:c.5766G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5604G>A
  hgvsp: ENST00000450102.2:c.5604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5763G>A
  hgvsp: ENST00000443581.1:c.5763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5712G>A
  hgvsp: ENST00000425664.1:c.5712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5604G>A
  hgvsp: ENST00000449557.2:c.5604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5712G>A
  hgvsp: ENST00000414099.2:c.5712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5667G>A
  hgvsp: ENST00000455624.2:c.5667G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys1922Lys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

3-38592104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592104
    reference: chr 3
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5759C>G
  hgvsp: ENSP00000410257.1:p.Ser1920Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5597C>G
  hgvsp: ENSP00000403355.2:p.Ser1866Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5756C>G
  hgvsp: ENSP00000397915.1:p.Ser1919Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5660C>G
  hgvsp: ENSP00000399524.2:p.Ser1887Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5759C>G
  hgvsp: ENSP00000328968.4:p.Ser1920Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5597C>G
  hgvsp: ENSP00000388797.2:p.Ser1866Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5705C>G
  hgvsp: ENSP00000416634.1:p.Ser1902Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5756C>G
  hgvsp: ENSP00000398266.2:p.Ser1919Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5705C>G
  hgvsp: ENSP00000398962.2:p.Ser1902Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5597C>G
  hgvsp: ENSP00000413996.2:p.Ser1866Cys
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9537
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1920Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

3-38592107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592107
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592107
    reference: chr 3
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5753G>A
  hgvsp: ENSP00000398266.2:p.Arg1918His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5594G>A
  hgvsp: ENSP00000413996.2:p.Arg1865His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5702G>A
  hgvsp: ENSP00000416634.1:p.Arg1901His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5753G>A
  hgvsp: ENSP00000397915.1:p.Arg1918His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5594G>A
  hgvsp: ENSP00000403355.2:p.Arg1865His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5756G>A
  hgvsp: ENSP00000410257.1:p.Arg1919His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5702G>A
  hgvsp: ENSP00000398962.2:p.Arg1901His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5594G>A
  hgvsp: ENSP00000388797.2:p.Arg1865His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5657G>A
  hgvsp: ENSP00000399524.2:p.Arg1886His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5756G>A
  hgvsp: ENSP00000328968.4:p.Arg1919His
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1919His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

3-38592108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592108
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592108
    reference: chr 3
allele count: 3
allele frequency: 2.484554353767412e-5
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5656C>T
  hgvsp: ENSP00000399524.2:p.Arg1886Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5752C>T
  hgvsp: ENSP00000397915.1:p.Arg1918Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5593C>T
  hgvsp: ENSP00000403355.2:p.Arg1865Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5593C>T
  hgvsp: ENSP00000388797.2:p.Arg1865Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5593C>T
  hgvsp: ENSP00000413996.2:p.Arg1865Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5755C>T
  hgvsp: ENSP00000410257.1:p.Arg1919Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5752C>T
  hgvsp: ENSP00000398266.2:p.Arg1918Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5755C>T
  hgvsp: ENSP00000328968.4:p.Arg1919Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5701C>T
  hgvsp: ENSP00000398962.2:p.Arg1901Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5701C>T
  hgvsp: ENSP00000416634.1:p.Arg1901Cys
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1919Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-38592113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592113
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592113
    reference: chr 3
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5747T>C
  hgvsp: ENSP00000397915.1:p.Leu1916Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5696T>C
  hgvsp: ENSP00000416634.1:p.Leu1899Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5588T>C
  hgvsp: ENSP00000388797.2:p.Leu1863Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5750T>C
  hgvsp: ENSP00000328968.4:p.Leu1917Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5651T>C
  hgvsp: ENSP00000399524.2:p.Leu1884Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5696T>C
  hgvsp: ENSP00000398962.2:p.Leu1899Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5750T>C
  hgvsp: ENSP00000410257.1:p.Leu1917Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5747T>C
  hgvsp: ENSP00000398266.2:p.Leu1916Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5588T>C
  hgvsp: ENSP00000403355.2:p.Leu1863Pro
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5588T>C
  hgvsp: ENSP00000413996.2:p.Leu1863Pro
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1917Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-38592120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592120
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592120
    reference: chr 3
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5581C>T
  hgvsp: ENSP00000403355.2:p.His1861Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5743C>T
  hgvsp: ENSP00000410257.1:p.His1915Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5689C>T
  hgvsp: ENSP00000398962.2:p.His1897Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5689C>T
  hgvsp: ENSP00000416634.1:p.His1897Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5581C>T
  hgvsp: ENSP00000388797.2:p.His1861Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5581C>T
  hgvsp: ENSP00000413996.2:p.His1861Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5740C>T
  hgvsp: ENSP00000397915.1:p.His1914Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5740C>T
  hgvsp: ENSP00000398266.2:p.His1914Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5644C>T
  hgvsp: ENSP00000399524.2:p.His1882Tyr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5743C>T
  hgvsp: ENSP00000328968.4:p.His1915Tyr
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His1915Tyr
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-38592120-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592120
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592120
    reference: chr 3
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5581C>A
  hgvsp: ENSP00000413996.2:p.His1861Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5581C>A
  hgvsp: ENSP00000403355.2:p.His1861Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5740C>A
  hgvsp: ENSP00000397915.1:p.His1914Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5740C>A
  hgvsp: ENSP00000398266.2:p.His1914Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5644C>A
  hgvsp: ENSP00000399524.2:p.His1882Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5581C>A
  hgvsp: ENSP00000388797.2:p.His1861Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5743C>A
  hgvsp: ENSP00000410257.1:p.His1915Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5689C>A
  hgvsp: ENSP00000416634.1:p.His1897Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5743C>A
  hgvsp: ENSP00000328968.4:p.His1915Asn
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5689C>A
  hgvsp: ENSP00000398962.2:p.His1897Asn
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His1915Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

3-38592123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592123
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592123
    reference: chr 3
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5578A>G
  hgvsp: ENSP00000388797.2:p.Arg1860Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5686A>G
  hgvsp: ENSP00000416634.1:p.Arg1896Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5641A>G
  hgvsp: ENSP00000399524.2:p.Arg1881Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5737A>G
  hgvsp: ENSP00000397915.1:p.Arg1913Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5740A>G
  hgvsp: ENSP00000410257.1:p.Arg1914Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5686A>G
  hgvsp: ENSP00000398962.2:p.Arg1896Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5578A>G
  hgvsp: ENSP00000403355.2:p.Arg1860Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5740A>G
  hgvsp: ENSP00000328968.4:p.Arg1914Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5578A>G
  hgvsp: ENSP00000413996.2:p.Arg1860Gly
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5737A>G
  hgvsp: ENSP00000398266.2:p.Arg1913Gly
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg1914Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

3-38592125-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592125
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592125
    reference: chr 3
allele count: 4
allele frequency: 3.312025966283576e-5
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5735G>A
  hgvsp: ENSP00000397915.1:p.Arg1912His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5639G>A
  hgvsp: ENSP00000399524.2:p.Arg1880His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5738G>A
  hgvsp: ENSP00000410257.1:p.Arg1913His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5735G>A
  hgvsp: ENSP00000398266.2:p.Arg1912His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5576G>A
  hgvsp: ENSP00000413996.2:p.Arg1859His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5738G>A
  hgvsp: ENSP00000328968.4:p.Arg1913His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5576G>A
  hgvsp: ENSP00000403355.2:p.Arg1859His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5684G>A
  hgvsp: ENSP00000398962.2:p.Arg1895His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5576G>A
  hgvsp: ENSP00000388797.2:p.Arg1859His
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5684G>A
  hgvsp: ENSP00000416634.1:p.Arg1895His
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1913His
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-38592126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592126
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592126
    reference: chr 3
allele count: 1
allele frequency: 8.279927799029592e-6
allele num: 120774
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5734C>T
  hgvsp: ENSP00000397915.1:p.Arg1912Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5575C>T
  hgvsp: ENSP00000388797.2:p.Arg1859Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5734C>T
  hgvsp: ENSP00000398266.2:p.Arg1912Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5575C>T
  hgvsp: ENSP00000413996.2:p.Arg1859Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5575C>T
  hgvsp: ENSP00000403355.2:p.Arg1859Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5737C>T
  hgvsp: ENSP00000410257.1:p.Arg1913Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5737C>T
  hgvsp: ENSP00000328968.4:p.Arg1913Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5683C>T
  hgvsp: ENSP00000398962.2:p.Arg1895Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5638C>T
  hgvsp: ENSP00000399524.2:p.Arg1880Cys
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5683C>T
  hgvsp: ENSP00000416634.1:p.Arg1895Cys
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4659
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg1913Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-38592130-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592130
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592130
    reference: chr 3
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5634C>T
  hgvsp: ENST00000455624.2:c.5634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5730C>T
  hgvsp: ENST00000423572.2:c.5730C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5679C>T
  hgvsp: ENST00000425664.1:c.5679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5733C>T
  hgvsp: ENST00000333535.4:c.5733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5571C>T
  hgvsp: ENST00000451551.2:c.5571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5571C>T
  hgvsp: ENST00000449557.2:c.5571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5730C>T
  hgvsp: ENST00000443581.1:c.5730C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5733C>T
  hgvsp: ENST00000413689.1:c.5733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5571C>T
  hgvsp: ENST00000450102.2:c.5571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5679C>T
  hgvsp: ENST00000414099.2:c.5679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1911Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD

3-38592141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592141
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592141
    reference: chr 3
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5719A>G
  hgvsp: ENSP00000397915.1:p.Ile1907Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5722A>G
  hgvsp: ENSP00000328968.4:p.Ile1908Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5560A>G
  hgvsp: ENSP00000403355.2:p.Ile1854Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5719A>G
  hgvsp: ENSP00000398266.2:p.Ile1907Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5668A>G
  hgvsp: ENSP00000416634.1:p.Ile1890Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5722A>G
  hgvsp: ENSP00000410257.1:p.Ile1908Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5560A>G
  hgvsp: ENSP00000413996.2:p.Ile1854Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5668A>G
  hgvsp: ENSP00000398962.2:p.Ile1890Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5560A>G
  hgvsp: ENSP00000388797.2:p.Ile1854Val
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5623A>G
  hgvsp: ENSP00000399524.2:p.Ile1875Val
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile1908Val
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS

3-38592146-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592146
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592146
    reference: chr 3
allele count: 2
allele frequency: 1.65604040738594e-5
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5555T>C
  hgvsp: ENSP00000403355.2:p.Met1852Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5555T>C
  hgvsp: ENSP00000413996.2:p.Met1852Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5555T>C
  hgvsp: ENSP00000388797.2:p.Met1852Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5717T>C
  hgvsp: ENSP00000410257.1:p.Met1906Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5714T>C
  hgvsp: ENSP00000398266.2:p.Met1905Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5717T>C
  hgvsp: ENSP00000328968.4:p.Met1906Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5714T>C
  hgvsp: ENSP00000397915.1:p.Met1905Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5663T>C
  hgvsp: ENSP00000416634.1:p.Met1888Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5663T>C
  hgvsp: ENSP00000398962.2:p.Met1888Thr
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5618T>C
  hgvsp: ENSP00000399524.2:p.Met1873Thr
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met1906Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-38592151-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592151
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592151
    reference: chr 3
allele count: 71
allele frequency: 5.878943446220088e-4
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5712G>A
  hgvsp: ENST00000333535.4:c.5712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5550G>A
  hgvsp: ENST00000451551.2:c.5550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5658G>A
  hgvsp: ENST00000425664.1:c.5658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5709G>A
  hgvsp: ENST00000443581.1:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5709G>A
  hgvsp: ENST00000423572.2:c.5709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5658G>A
  hgvsp: ENST00000414099.2:c.5658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5613G>A
  hgvsp: ENST00000455624.2:c.5613G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5712G>A
  hgvsp: ENST00000413689.1:c.5712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5550G>A
  hgvsp: ENST00000449557.2:c.5550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5550G>A
  hgvsp: ENST00000450102.2:c.5550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 11806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9530
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1904Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

3-38592152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592152
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592152
    reference: chr 3
allele count: 23
allele frequency: 1.904478007419184e-4
allele num: 120768
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5711C>T
  hgvsp: ENSP00000410257.1:p.Ser1904Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5711C>T
  hgvsp: ENSP00000328968.4:p.Ser1904Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5657C>T
  hgvsp: ENSP00000416634.1:p.Ser1886Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5549C>T
  hgvsp: ENSP00000403355.2:p.Ser1850Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5549C>T
  hgvsp: ENSP00000413996.2:p.Ser1850Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5708C>T
  hgvsp: ENSP00000397915.1:p.Ser1903Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5612C>T
  hgvsp: ENSP00000399524.2:p.Ser1871Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5657C>T
  hgvsp: ENSP00000398962.2:p.Ser1886Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5708C>T
  hgvsp: ENSP00000398266.2:p.Ser1903Leu
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5549C>T
  hgvsp: ENSP00000388797.2:p.Ser1850Leu
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1904Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-38592162-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 38592162
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 38592162
    reference: chr 3
allele count: 3
allele frequency: 2.48406061107891e-5
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000397915
  ensembl transcript: ENST00000443581
  gene symbol: SCN5A
  hgvsc: ENST00000443581.1:c.5698G>C
  hgvsp: ENSP00000397915.1:p.Glu1900Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398266
  ensembl transcript: ENST00000423572
  gene symbol: SCN5A
  hgvsc: ENST00000423572.2:c.5698G>C
  hgvsp: ENSP00000398266.2:p.Glu1900Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000416634
  ensembl transcript: ENST00000425664
  gene symbol: SCN5A
  hgvsc: ENST00000425664.1:c.5647G>C
  hgvsp: ENSP00000416634.1:p.Glu1883Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000328968
  ensembl transcript: ENST00000333535
  gene symbol: SCN5A
  hgvsc: ENST00000333535.4:c.5701G>C
  hgvsp: ENSP00000328968.4:p.Glu1901Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000403355
  ensembl transcript: ENST00000450102
  gene symbol: SCN5A
  hgvsc: ENST00000450102.2:c.5539G>C
  hgvsp: ENSP00000403355.2:p.Glu1847Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000410257
  ensembl transcript: ENST00000413689
  gene symbol: SCN5A
  hgvsc: ENST00000413689.1:c.5701G>C
  hgvsp: ENSP00000410257.1:p.Glu1901Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000398962
  ensembl transcript: ENST00000414099
  gene symbol: SCN5A
  hgvsc: ENST00000414099.2:c.5647G>C
  hgvsp: ENSP00000398962.2:p.Glu1883Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000399524
  ensembl transcript: ENST00000455624
  gene symbol: SCN5A
  hgvsc: ENST00000455624.2:c.5602G>C
  hgvsp: ENSP00000399524.2:p.Glu1868Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000388797
  ensembl transcript: ENST00000451551
  gene symbol: SCN5A
  hgvsc: ENST00000451551.2:c.5539G>C
  hgvsp: ENSP00000388797.2:p.Glu1847Gln
  variant of: http://identifiers.org/hgnc/10593
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183873
  ensembl protein: ENSP00000413996
  ensembl transcript: ENST00000449557
  gene symbol: SCN5A
  hgvsc: ENST00000449557.2:c.5539G>C
  hgvsp: ENSP00000413996.2:p.Glu1847Gln
  variant of: http://identifiers.org/hgnc/10593
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17960
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu1901Gln
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10320
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 931
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4671
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55724430048586e-5
allele num: 64216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

FS
type: SiteQuality
SIO_000300: 7.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.658e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

QD
type: SiteQuality
SIO_000300: 1.4e1

DP
type: SiteQuality
SIO_000300: 1.753747e6

GenotypeQuality
all individuals: 25541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3821
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4670
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556662515566625e-5
allele num: 64240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.237e0

DP
type: SiteQuality
SIO_000300: 1.754206e6

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.007e0

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.009e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.161e0

GenotypeQuality
all individuals: 3851
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10320
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4667
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4367
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555839064007219e-5
allele num: 64274
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.879999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.91e0

DP
type: SiteQuality
SIO_000300: 1.755231e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

QD
type: SiteQuality
SIO_000300: 2.092e1

GenotypeQuality
all individuals: 4308
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25573
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4362
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4665
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64334
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.589e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: -4.781e-1

DP
type: SiteQuality
SIO_000300: 1.756272e6

QD
type: SiteQuality
SIO_000300: 1.32e1

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1416
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3889
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4663
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 10282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.03950103950104e-4
allele num: 9620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.75604e6

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.945e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.784e0

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 25279
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552553951249806e-5
allele num: 64410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10412
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.75418e6

ClippingRankSum
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SIO_000300: 1.44e0

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.968e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.213e0

QD
type: SiteQuality
SIO_000300: 1.26e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
type: Population
allele count: 1
allele frequency: 1.166588894073728e-4
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.108582797102801e-5
allele num: 64338
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.748557440111908e-4
allele num: 11438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10434
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.381e0

QD
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
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SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.82e0

BaseQRankSum
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SIO_000300: -1.042e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

DP
type: SiteQuality
SIO_000300: 1.753769e6

GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039933444259567e-4
allele num: 9616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549666821633349e-5
allele num: 64530
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.635e1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

MQ
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SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 4.222e0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

DP
type: SiteQuality
SIO_000300: 1.725399e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039717196922437e-4
allele num: 9618
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 5.089e1

MQRankSum
type: SiteQuality
SIO_000300: -4.586e0

QD
type: SiteQuality
SIO_000300: 4.62e0

DP
type: SiteQuality
SIO_000300: 1.720938e6

FS
type: SiteQuality
SIO_000300: 2.152e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.403e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
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MQRankSum
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DP
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SIO_000300: 1.689534e6

BaseQRankSum
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ReadPosRankSum
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SIO_000300: -1.147e0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64530
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.122398001665279e-4
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 1.3e-3

DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
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SIO_000300: 8.599999999999999e-2

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550868486352357e-5
allele num: 64480
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.510638297872341e-5
allele num: 11750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.041016031646887e-4
allele num: 9606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.68486e6

MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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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: 1.550868486352357e-5
allele num: 64480
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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DP
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VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 3.8e-3

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

East Asian
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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SIO_000300: 1.22e-1

MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8462
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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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11304
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European (Non-Finnish)
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allele num: 64384
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South Asian
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Other
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VQSLOD
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FS
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DP
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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SIO_000300: 1.02e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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Other
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VQSLOD
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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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ClippingRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 64202
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South Asian
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FS
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DP
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BaseQRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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Other
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African
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allele num: 9524
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European (Non-Finnish)
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South Asian
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European (Finnish)
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InbreedingCoeff
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DP
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

African
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allele num: 9528
num of homozygotes: 0

East Asian
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Latino
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European (Non-Finnish)
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allele num: 64012
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Other
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South Asian
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European (Finnish)
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QD
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VQSLOD
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ClippingRankSum
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FS
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

GenotypeQuality
all individuals: 1409
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5653
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2294
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 4.75e1
variant carriers: 1

South Asian
type: Population
allele count: 2
allele frequency: 1.48214021046391e-4
allele num: 13494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.560352e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e-1

GenotypeQuality
all individuals: 4239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2950
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6368
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19517
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13684
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.971828458639871e-5
allele num: 11146
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64242
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.65e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 1.344e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

DP
type: SiteQuality
SIO_000300: 1.557778e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 2107
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4241
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2946
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2854
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20751
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6399
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553760099440646e-5
allele num: 64360
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.029e0

DP
type: SiteQuality
SIO_000300: 1.559121e6

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.872e0

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

QD
type: SiteQuality
SIO_000300: 1.169e1

GenotypeQuality
all individuals: 157
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6378
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2276
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2897
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1350
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14046
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554436361375365e-5
allele num: 64332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 1.461e1

FS
type: SiteQuality
SIO_000300: 2.574e0

MQRankSum
type: SiteQuality
SIO_000300: -1.747e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 5.389e1

DP
type: SiteQuality
SIO_000300: 1.557894e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

GenotypeDepth
all individuals: 1174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5111
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2958
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6312
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20188
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4237
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2082
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55448468832582e-5
allele num: 64330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.133486526007938e-4
allele num: 9574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14254
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.291e1

FS
type: SiteQuality
SIO_000300: 5.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.165e0

DP
type: SiteQuality
SIO_000300: 1.560256e6

GenotypeQuality
all individuals: 3021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 334
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2110
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4400
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3192
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20074
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1208
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 9.75e1
variant carriers: 614

GenotypeQuality
all individuals: 1931
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 31
allele frequency: 2.076078221269756e-3
allele num: 14932
num of homozygotes: 0

East Asian
type: Population
allele count: 25
allele frequency: 3.022243713733075e-3
allele num: 8272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 43
allele frequency: 6.660883573951298e-4
allele num: 64556
num of homozygotes: 0

Latino
type: Population
allele count: 476
allele frequency: 4.269824183710082e-2
allele num: 11148
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.076591817902184e-3
allele num: 6502
num of homozygotes: 0

African
type: Population
allele count: 38
allele frequency: 3.957508852322432e-3
allele num: 9602
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 8.31353919239905e-3
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

DP
type: SiteQuality
SIO_000300: 1.575311e6

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.473e1

GenotypeQuality
all individuals: 155
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2110
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4839
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3192
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.34851326011251e-4
allele num: 14932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64556
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.044487427466151e-4
allele num: 8272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11148
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

DP
type: SiteQuality
SIO_000300: 1.575311e6

GenotypeQuality
all individuals: 1956
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2609
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4291
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 129
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64656
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.207146306132303e-4
allele num: 8284
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.318391562294001e-4
allele num: 15170
num of homozygotes: 0

QD
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SIO_000300: 1.282e1

MQRankSum
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SIO_000300: -6.95e-1

BaseQRankSum
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SIO_000300: 9.06e-1

FS
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SIO_000300: 7.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.580247e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.78699070764832e-4
allele num: 11192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ReadPosRankSum
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SIO_000300: -6.56e-1

InbreedingCoeff
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SIO_000300: 2.9e-3

QD
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SIO_000300: 1.262e1

DP
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SIO_000300: 1.590709e6

FS
type: SiteQuality
SIO_000300: 2.43e0

BaseQRankSum
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SIO_000300: -2.205e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 18

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: 24

GenotypeQuality
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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: 10

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
all individuals: 23284
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variant carriers: 7

GenotypeQuality
all individuals: 6024
bin: 9.75e1
variant carriers: 1916

European (Non-Finnish)
type: Population
allele count: 63
allele frequency: 9.716224552745219e-4
allele num: 64840
num of homozygotes: 0

African
type: Population
allele count: 2064
allele frequency: 2.146422628951747e-1
allele num: 9616
num of homozygotes: 228

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

Other
type: Population
allele count: 15
allele frequency: 1.744186046511628e-2
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.023017902813299e-3
allele num: 15640
num of homozygotes: 0

Latino
type: Population
allele count: 110
allele frequency: 9.821428571428571e-3
allele num: 11200
num of homozygotes: 1

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

VQSLOD
type: SiteQuality
SIO_000300: 6.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.7e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.709e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

BaseQRankSum
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SIO_000300: 9.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.621596e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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
all individuals: 144
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7384
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538603563405853e-5
allele num: 64994
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15762
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

MQRankSum
type: SiteQuality
SIO_000300: -4.93e-1

DP
type: SiteQuality
SIO_000300: 1.618255e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1960
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GenotypeQuality
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GenotypeQuality
all individuals: 7502
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 894
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539219307966999e-5
allele num: 64968
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

BaseQRankSum
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SIO_000300: -4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
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SIO_000300: 5.977e0

QD
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SIO_000300: 1.172e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.627865e6

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532520076012996e-5
allele num: 65252
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.200192030724916e-4
allele num: 8332
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: 9.2e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

DP
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SIO_000300: 1.659938e6

FS
type: SiteQuality
SIO_000300: 1.5477e1

MQRankSum
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SIO_000300: 8.500000000000001e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527277170260859e-5
allele num: 65476
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16310
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VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.122e1

ReadPosRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26417
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65522
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South Asian
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allele frequency: 6.125199068969742e-5
allele num: 16326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.06e-1

DP
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VQSLOD
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SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.15e-1

GenotypeDepth
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4266
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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
all individuals: 1628
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: 6.1e-3

ReadPosRankSum
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SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.718161e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeDepth
all individuals: 25
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.80126738250308e-5
allele num: 11362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65768
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.224e1

BaseQRankSum
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SIO_000300: -1.506e0

VQSLOD
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SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.718161e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

InbreedingCoeff
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SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4920
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 1
allele frequency: 1.030078285949732e-4
allele num: 9708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

QD
type: SiteQuality
SIO_000300: 8.57e0

DP
type: SiteQuality
SIO_000300: 1.72367e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 7.572e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: -3.635e-1

GenotypeQuality
all individuals: 273
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183712121212121e-4
allele num: 8448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.727252e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.554e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 1.524e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1708
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variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.178967224711153e-4
allele num: 8482
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 9.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 1.756e0

QD
type: SiteQuality
SIO_000300: 1.546e1

DP
type: SiteQuality
SIO_000300: 1.739036e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

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

East Asian
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.120312594656812e-4
allele num: 66028
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.743121e6

QD
type: SiteQuality
SIO_000300: 1.478e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1747
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024380249948781e-4
allele num: 9762
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.029999999999999e0

DP
type: SiteQuality
SIO_000300: 1.750634e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4493
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511258878645912e-5
allele num: 66170
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

FS
type: SiteQuality
SIO_000300: 8.029999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 1.750634e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.75e1
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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: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

FS
type: SiteQuality
SIO_000300: 8.029999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 1.750634e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.25e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 5058
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020600495378481e-5
allele num: 66212
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

DP
type: SiteQuality
SIO_000300: 1.754901e6

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.493e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

GenotypeDepth
all individuals: 103
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 121
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
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 144
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 47

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510300247689241e-5
allele num: 66212
num of homozygotes: 0

African
type: Population
allele count: 39
allele frequency: 3.993446651648577e-3
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.228302544440571e-4
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 1.754901e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

QD
type: SiteQuality
SIO_000300: 1.493e1

GenotypeQuality
all individuals: 27923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 9361
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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: 126
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variant carriers: 0

GenotypeQuality
all individuals: 4551
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variant carriers: 0

GenotypeQuality
all individuals: 112
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GenotypeQuality
all individuals: 1764
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.024170421958214e-4
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.020828457758015e-4
allele num: 8546
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.94e-1

DP
type: SiteQuality
SIO_000300: 1.757031e6

FS
type: SiteQuality
SIO_000300: 1.181e0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

GenotypeQuality
all individuals: 1817
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5101
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504573904670197e-5
allele num: 66464
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.76627e6

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.173e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

FS
type: SiteQuality
SIO_000300: 1.0412e1

QD
type: SiteQuality
SIO_000300: 1.128e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.25e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 19
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GenotypeQuality
all individuals: 67
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.537e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
SIO_000300: 1.767375e6

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
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VQSLOD
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
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SIO_000300: 1.12e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4641
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GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.392111368909513e-3
allele num: 8620
num of homozygotes: 0

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: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

FS
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.771691e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.235e0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9522
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5165
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4649
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5183
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.077155824508321e-4
allele num: 6610
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.454e0

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

QD
type: SiteQuality
SIO_000300: 1.36e1

FS
type: SiteQuality
SIO_000300: 1.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.545e1

DP
type: SiteQuality
SIO_000300: 1.772492e6

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3693
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28344
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1854
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9530
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5187
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5172
bin: 9.75e1
variant carriers: 5

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.502100588164687e-5
allele num: 66648
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 8624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 4.934e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.581e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.773374e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

QD
type: SiteQuality
SIO_000300: 1.341e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28358
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5173
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5188
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
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: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.718e0

VQSLOD
type: SiteQuality
SIO_000300: -1.87e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

MQRankSum
type: SiteQuality
SIO_000300: -1.349e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.421e0

DP
type: SiteQuality
SIO_000300: 1.773797e6

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4655
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5175
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1857
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.479e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

DP
type: SiteQuality
SIO_000300: 1.773986e6

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.211e1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28366
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4661
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 1858
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5178
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
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: 8626
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: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.145e-1

FS
type: SiteQuality
SIO_000300: 1.124e0

DP
type: SiteQuality
SIO_000300: 1.774678e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 8.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

GenotypeQuality
all individuals: 1859
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 9544
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 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: 898
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: 1.019783805833163e-4
allele num: 9806
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.688e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.774824e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeDepth
all individuals: 40
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 28372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1859
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5198
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5179
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.774933e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

QD
type: SiteQuality
SIO_000300: 1.076e1

GenotypeQuality
all individuals: 9549
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11570
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South Asian
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allele frequency: 0.0e0
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African
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allele num: 9806
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 frequency: 0.0e0
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Other
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num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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FS
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MQ
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VQSLOD
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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European (Finnish)
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South Asian
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Latino
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Other
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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European (Non-Finnish)
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allele num: 66738
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East Asian
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European (Finnish)
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South Asian
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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QD
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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VQSLOD
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ReadPosRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.56e0

QD
type: SiteQuality
SIO_000300: 1.625e1

MQRankSum
type: SiteQuality
SIO_000300: -1.927e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.069e0

VQSLOD
type: SiteQuality
SIO_000300: -2.187e0

FS
type: SiteQuality
SIO_000300: 6.45e-1

GenotypeQuality
all individuals: 5191
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1830
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3704
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
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: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

DP
type: SiteQuality
SIO_000300: 1.77588e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 3.458e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.23e1

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

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

GenotypeQuality
all individuals: 5258
bin: 9.75e1
variant carriers: 71

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4651
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1829
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28335
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

Latino
type: Population
allele count: 61
allele frequency: 5.269523151347616e-3
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

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.098919029165817e-4
allele num: 9806
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: 1.203e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.782908e6

GenotypeDepth
all individuals: 665
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1827
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 1858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

African
type: Population
allele count: 21
allele frequency: 2.141545992249643e-3
allele num: 9806
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

FS
type: SiteQuality
SIO_000300: 1.254e0

DP
type: SiteQuality
SIO_000300: 1.781406e6

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0