13-36878509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878509
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878509
    reference: chr 13
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1994A>G
  hgvsp: ENSP00000347314.4:p.Asp665Gly
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.618A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1994A>G
  hgvsp: ENSP00000406061.2:p.Asp665Gly
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1994A>G
  hgvsp: ENSP00000473599.1:p.Asp665Gly
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1994A>G
  hgvsp: ENSP00000414147.1:p.Asp665Gly
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp665Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

13-36878511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878511
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878511
    reference: chr 13
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1992A>G
  hgvsp: ENST00000494062.2:c.1992A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1992A>G
  hgvsp: ENST00000438666.2:c.1992A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.616A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1992A>G
  hgvsp: ENST00000451493.1:c.1992A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1992A>G
  hgvsp: ENST00000355182.4:c.1992A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
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genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys664Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

13-36878514-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878514
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878514
    reference: chr 13
allele count: 17
allele frequency: 1.400398701748027e-4
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1989G>A
  hgvsp: ENST00000451493.1:c.1989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1989G>A
  hgvsp: ENST00000355182.4:c.1989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1989G>A
  hgvsp: ENST00000438666.2:c.1989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.613G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1989G>A
  hgvsp: ENST00000494062.2:c.1989G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
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  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 117
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genotype depth: GenotypeDepth
  all individuals: 77
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genotype depth: GenotypeDepth
  all individuals: 1289
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys663Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

13-36878519-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878519
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878519
    reference: chr 13
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1984A>G
  hgvsp: ENSP00000473599.1:p.Lys662Glu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.608A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1984A>G
  hgvsp: ENSP00000347314.4:p.Lys662Glu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1984A>G
  hgvsp: ENSP00000414147.1:p.Lys662Glu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1984A>G
  hgvsp: ENSP00000406061.2:p.Lys662Glu
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31710
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys662Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

13-36878529-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878529
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878528
    reference: chr 13
allele count: 4
allele frequency: 3.295001482750667e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1973delT
  hgvsp: ENSP00000414147.1:p.Val658GlufsTer22
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1973delT
  hgvsp: ENSP00000473599.1:p.Val658GlufsTer22
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1973delT
  hgvsp: ENSP00000406061.2:p.Val658GlufsTer22
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.597delT
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1973delT
  hgvsp: ENSP00000347314.4:p.Val658GlufsTer22
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val658GlufsTer22
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: TA
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

13-36878530-ACTTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878530
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878526
    reference: chr 13
allele count: 7
allele frequency: 5.766917664892653e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1969_1972delGAAG
  hgvsp: ENSP00000406061.2:p.Glu657Ter
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.593_596delGAAG
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1969_1972delGAAG
  hgvsp: ENSP00000473599.1:p.Glu657Ter
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1969_1972delGAAG
  hgvsp: ENSP00000414147.1:p.Glu657Ter
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1969_1972delGAAG
  hgvsp: ENSP00000347314.4:p.Glu657Ter
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 8620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43352
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu657Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: ACTTC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

13-36878534-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878534
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878534
    reference: chr 13
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1969G>C
  hgvsp: ENSP00000406061.2:p.Glu657Gln
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1969G>C
  hgvsp: ENSP00000414147.1:p.Glu657Gln
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1969G>C
  hgvsp: ENSP00000473599.1:p.Glu657Gln
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.593G>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1969G>C
  hgvsp: ENSP00000347314.4:p.Glu657Gln
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu657Gln
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

13-36878549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878549
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878549
    reference: chr 13
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1954G>A
  hgvsp: ENSP00000473599.1:p.Asp652Asn
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1954G>A
  hgvsp: ENSP00000414147.1:p.Asp652Asn
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1954G>A
  hgvsp: ENSP00000347314.4:p.Asp652Asn
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.578G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1954G>A
  hgvsp: ENSP00000406061.2:p.Asp652Asn
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp652Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

13-36878554-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878554
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878555
    reference: chr 13
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1948dupG
  hgvsp: ENSP00000347314.4:p.Glu650GlyfsTer4
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.572dupG
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1948dupG
  hgvsp: ENSP00000414147.1:p.Glu650GlyfsTer4
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1948dupG
  hgvsp: ENSP00000406061.2:p.Glu650GlyfsTer4
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1948dupG
  hgvsp: ENSP00000473599.1:p.Glu650GlyfsTer4
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8617
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu650GlyfsTer4
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

13-36878555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878555
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878555
    reference: chr 13
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.572G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1948G>A
  hgvsp: ENSP00000473599.1:p.Glu650Lys
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1948G>A
  hgvsp: ENSP00000414147.1:p.Glu650Lys
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1948G>A
  hgvsp: ENSP00000406061.2:p.Glu650Lys
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1948G>A
  hgvsp: ENSP00000347314.4:p.Glu650Lys
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43363
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu650Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

13-36878556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878556
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878556
    reference: chr 13
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1947G>A
  hgvsp: ENST00000494062.2:c.1947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1947G>A
  hgvsp: ENST00000451493.1:c.1947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1947G>A
  hgvsp: ENST00000355182.4:c.1947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.571G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1947G>A
  hgvsp: ENST00000438666.2:c.1947G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly649Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

13-36878557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878557
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878557
    reference: chr 13
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1946G>C
  hgvsp: ENSP00000473599.1:p.Gly649Ala
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1946G>C
  hgvsp: ENSP00000347314.4:p.Gly649Ala
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1946G>C
  hgvsp: ENSP00000406061.2:p.Gly649Ala
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.570G>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1946G>C
  hgvsp: ENSP00000414147.1:p.Gly649Ala
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly649Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

13-36878564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878564
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878564
    reference: chr 13
allele count: 27
allele frequency: 2.224565797712817e-4
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1939G>A
  hgvsp: ENSP00000414147.1:p.Val647Met
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1939G>A
  hgvsp: ENSP00000473599.1:p.Val647Met
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1939G>A
  hgvsp: ENSP00000406061.2:p.Val647Met
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.563G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1939G>A
  hgvsp: ENSP00000347314.4:p.Val647Met
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val647Met
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

13-36878565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878565
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878565
    reference: chr 13
allele count: 11
allele frequency: 9.066183136899366e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1938C>T
  hgvsp: ENST00000494062.2:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.562C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1938C>T
  hgvsp: ENST00000355182.4:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1938C>T
  hgvsp: ENST00000438666.2:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1938C>T
  hgvsp: ENST00000451493.1:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 9.75e1
  variant carriers: 11
hgvs: p.Asn646Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

13-36878571-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878571
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878571
    reference: chr 13
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1932T>C
  hgvsp: ENST00000438666.2:c.1932T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.556T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1932T>C
  hgvsp: ENST00000494062.2:c.1932T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1932T>C
  hgvsp: ENST00000451493.1:c.1932T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1932T>C
  hgvsp: ENST00000355182.4:c.1932T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn644Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

13-36878580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878580
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878580
    reference: chr 13
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1923A>G
  hgvsp: ENST00000438666.2:c.1923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1923A>G
  hgvsp: ENST00000355182.4:c.1923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1923A>G
  hgvsp: ENST00000494062.2:c.1923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.547A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1923A>G
  hgvsp: ENST00000451493.1:c.1923A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly641Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-36878613-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878613
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878613
    reference: chr 13
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1890A>C
  hgvsp: ENST00000355182.4:c.1890A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.656A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.367A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1890A>C
  hgvsp: ENST00000494062.2:c.1890A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1890A>C
  hgvsp: ENST00000438666.2:c.1890A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1890A>C
  hgvsp: ENST00000451493.1:c.1890A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.514A>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile630Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum

13-36878614-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878614
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878614
    reference: chr 13
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1889T>C
  hgvsp: ENSP00000473599.1:p.Ile630Thr
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.513T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1889T>C
  hgvsp: ENSP00000406061.2:p.Ile630Thr
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.655T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1889T>C
  hgvsp: ENSP00000414147.1:p.Ile630Thr
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1889T>C
  hgvsp: ENSP00000347314.4:p.Ile630Thr
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.366T>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile630Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/13-36878616-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878616
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878616
    reference: chr 13
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.653G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.511G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1887G>T
  hgvsp: ENSP00000347314.4:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1887G>T
  hgvsp: ENSP00000406061.2:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1887G>T
  hgvsp: ENSP00000473599.1:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.364G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1887G>T
  hgvsp: ENSP00000414147.1:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln629His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

13-36878616-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878616
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878616
    reference: chr 13
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1887G>C
  hgvsp: ENSP00000414147.1:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1887G>C
  hgvsp: ENSP00000406061.2:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1887G>C
  hgvsp: ENSP00000347314.4:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.364G>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1887G>C
  hgvsp: ENSP00000473599.1:p.Gln629His
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.511G>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.653G>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln629His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

13-36878620-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878620
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878620
    reference: chr 13
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1883A>C
  hgvsp: ENSP00000414147.1:p.Tyr628Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.507A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1883A>C
  hgvsp: ENSP00000406061.2:p.Tyr628Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1883A>C
  hgvsp: ENSP00000473599.1:p.Tyr628Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.360A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1883A>C
  hgvsp: ENSP00000347314.4:p.Tyr628Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.649A>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43422
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr628Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

13-36878625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878625
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878625
    reference: chr 13
allele count: 9
allele frequency: 7.41399762752076e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1878G>A
  hgvsp: ENST00000355182.4:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.355G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.502G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1878G>A
  hgvsp: ENST00000451493.1:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1878G>A
  hgvsp: ENST00000438666.2:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1878G>A
  hgvsp: ENST00000494062.2:c.1878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.644G>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Glu626Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

13-36878629-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878629
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878628
    reference: chr 13
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.639delC
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1873delC
  hgvsp: ENSP00000347314.4:p.Glu626ArgfsTer5
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.350delC
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.497delC
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1873delC
  hgvsp: ENSP00000414147.1:p.Glu626ArgfsTer5
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1873delC
  hgvsp: ENSP00000473599.1:p.Glu626ArgfsTer5
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1873delC
  hgvsp: ENSP00000406061.2:p.Glu626ArgfsTer5
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu626ArgfsTer5
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: AG
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

13-36878635-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878635
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878635
    reference: chr 13
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.634C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1868C>G
  hgvsp: ENSP00000414147.1:p.Thr623Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1868C>G
  hgvsp: ENSP00000347314.4:p.Thr623Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.345C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1868C>G
  hgvsp: ENSP00000473599.1:p.Thr623Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1868C>G
  hgvsp: ENSP00000406061.2:p.Thr623Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.492C>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr623Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

13-36878638-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878638
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878638
    reference: chr 13
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1865A>T
  hgvsp: ENSP00000414147.1:p.His622Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.342A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.631A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.489A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1865A>T
  hgvsp: ENSP00000406061.2:p.His622Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1865A>T
  hgvsp: ENSP00000347314.4:p.His622Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1865A>T
  hgvsp: ENSP00000473599.1:p.His622Leu
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His622Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

13-36878650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878650
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878650
    reference: chr 13
allele count: 7
allele frequency: 5.766632616074076e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.619C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1853C>T
  hgvsp: ENSP00000406061.2:p.Thr618Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.477C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1853C>T
  hgvsp: ENSP00000347314.4:p.Thr618Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1853C>T
  hgvsp: ENSP00000414147.1:p.Thr618Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1853C>T
  hgvsp: ENSP00000473599.1:p.Thr618Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.330C>T
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr618Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

13-36878653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878653
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878653
    reference: chr 13
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1850C>G
  hgvsp: ENSP00000347314.4:p.Ala617Gly
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.327C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1850C>G
  hgvsp: ENSP00000414147.1:p.Ala617Gly
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.616C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1850C>G
  hgvsp: ENSP00000473599.1:p.Ala617Gly
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.474C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1850C>G
  hgvsp: ENSP00000406061.2:p.Ala617Gly
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8626
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43442
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala617Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

13-36878657-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878657
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878657
    reference: chr 13
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.470A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1846A>T
  hgvsp: ENSP00000347314.4:p.Thr616Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1846A>T
  hgvsp: ENSP00000473599.1:p.Thr616Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.323A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1846A>T
  hgvsp: ENSP00000414147.1:p.Thr616Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.612A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1846A>T
  hgvsp: ENSP00000406061.2:p.Thr616Ser
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr616Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-36878666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878666
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878666
    reference: chr 13
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1837G>T
  hgvsp: ENSP00000473599.1:p.Val613Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.314G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.603G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.461G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1837G>T
  hgvsp: ENSP00000414147.1:p.Val613Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1837G>T
  hgvsp: ENSP00000347314.4:p.Val613Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1837G>T
  hgvsp: ENSP00000406061.2:p.Val613Leu
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val613Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

13-36878666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878666
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878666
    reference: chr 13
allele count: 6
allele frequency: 4.944049836022347e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.603G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1837G>A
  hgvsp: ENSP00000473599.1:p.Val613Met
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1837G>A
  hgvsp: ENSP00000347314.4:p.Val613Met
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.461G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1837G>A
  hgvsp: ENSP00000414147.1:p.Val613Met
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1837G>A
  hgvsp: ENSP00000406061.2:p.Val613Met
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.314G>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val613Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

13-36878667-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878667
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878667
    reference: chr 13
allele count: 19
allele frequency: 1.565564179891564e-4
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1836G>A
  hgvsp: ENSP00000406061.2:p.Met612Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.313G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1836G>A
  hgvsp: ENSP00000414147.1:p.Met612Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1836G>A
  hgvsp: ENSP00000473599.1:p.Met612Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.602G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1836G>A
  hgvsp: ENSP00000347314.4:p.Met612Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.460G>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met612Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

13-36878678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878678
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878678
    reference: chr 13
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.449A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1825A>G
  hgvsp: ENSP00000406061.2:p.Ile609Val
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1825A>G
  hgvsp: ENSP00000473599.1:p.Ile609Val
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1825A>G
  hgvsp: ENSP00000414147.1:p.Ile609Val
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1825A>G
  hgvsp: ENSP00000347314.4:p.Ile609Val
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.302A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.591A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile609Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

13-36878680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878680
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878680
    reference: chr 13
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.300G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.589G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1823G>A
  hgvsp: ENSP00000347314.4:p.Gly608Asp
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1823G>A
  hgvsp: ENSP00000414147.1:p.Gly608Asp
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.447G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1823G>A
  hgvsp: ENSP00000406061.2:p.Gly608Asp
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1823G>A
  hgvsp: ENSP00000473599.1:p.Gly608Asp
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly608Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

13-36878687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878687
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878687
    reference: chr 13
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.582A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1816A>G
  hgvsp: ENSP00000406061.2:p.Asn606Asp
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1816A>G
  hgvsp: ENSP00000347314.4:p.Asn606Asp
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.293A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.440A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1816A>G
  hgvsp: ENSP00000473599.1:p.Asn606Asp
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1816A>G
  hgvsp: ENSP00000414147.1:p.Asn606Asp
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43413
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn606Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

13-36878689-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878689
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878689
    reference: chr 13
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.291A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1814A>G
  hgvsp: ENSP00000406061.2:p.Asn605Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1814A>G
  hgvsp: ENSP00000347314.4:p.Asn605Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.438A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1814A>G
  hgvsp: ENSP00000414147.1:p.Asn605Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1814A>G
  hgvsp: ENSP00000473599.1:p.Asn605Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.580A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn605Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

13-36878698-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878698
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878698
    reference: chr 13
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1805A>G
  hgvsp: ENSP00000473599.1:p.Tyr602Cys
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.282A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1805A>G
  hgvsp: ENSP00000406061.2:p.Tyr602Cys
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.429A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1805A>G
  hgvsp: ENSP00000414147.1:p.Tyr602Cys
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1805A>G
  hgvsp: ENSP00000347314.4:p.Tyr602Cys
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.571A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr602Cys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

13-36878700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878700
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878700
    reference: chr 13
allele count: 13
allele frequency: 1.072147263550292e-4
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1803C>T
  hgvsp: ENST00000494062.2:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.569C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.427C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1803C>T
  hgvsp: ENST00000438666.2:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1803C>T
  hgvsp: ENST00000355182.4:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.280C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1803C>T
  hgvsp: ENST00000451493.1:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala601Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-36878708-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878708
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878708
    reference: chr 13
allele count: 54
allele frequency: 4.454857444561774e-4
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1795G>T
  hgvsp: ENSP00000406061.2:p.Val599Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1795G>T
  hgvsp: ENSP00000414147.1:p.Val599Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1795G>T
  hgvsp: ENSP00000473599.1:p.Val599Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1795G>T
  hgvsp: ENSP00000347314.4:p.Val599Leu
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.272G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.561G>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.419G>T
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31732
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 9.75e1
  variant carriers: 54
hgvs: p.Val599Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

13-36878708-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878708
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878709
    reference: chr 13
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: CG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1794dupC
  hgvsp: ENSP00000414147.1:p.Val599ArgfsTer7
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1794dupC
  hgvsp: ENSP00000473599.1:p.Val599ArgfsTer7
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.560dupC
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1794dupC
  hgvsp: ENSP00000406061.2:p.Val599ArgfsTer7
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1794dupC
  hgvsp: ENSP00000347314.4:p.Val599ArgfsTer7
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.271dupC
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.418dupC
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val599ArgfsTer7
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

13-36878708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878708
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878708
    reference: chr 13
allele count: 7
allele frequency: 5.774815205913411e-5
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1795G>A
  hgvsp: ENSP00000414147.1:p.Val599Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.272G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.419G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1795G>A
  hgvsp: ENSP00000406061.2:p.Val599Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1795G>A
  hgvsp: ENSP00000347314.4:p.Val599Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1795G>A
  hgvsp: ENSP00000473599.1:p.Val599Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.561G>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2789
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val599Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

13-36878716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878716
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878716
    reference: chr 13
allele count: 6
allele frequency: 4.953028777097195e-5
allele num: 121138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.411A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1787A>G
  hgvsp: ENSP00000473599.1:p.Asn596Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.264A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1787A>G
  hgvsp: ENSP00000406061.2:p.Asn596Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1787A>G
  hgvsp: ENSP00000347314.4:p.Asn596Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1787A>G
  hgvsp: ENSP00000414147.1:p.Asn596Ser
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.553A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn596Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

13-36878716-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878716
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878716
    reference: chr 13
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1787A>T
  hgvsp: ENSP00000414147.1:p.Asn596Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.411A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.264A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1787A>T
  hgvsp: ENSP00000347314.4:p.Asn596Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1787A>T
  hgvsp: ENSP00000473599.1:p.Asn596Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.553A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1787A>T
  hgvsp: ENSP00000406061.2:p.Asn596Ile
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1701
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn596Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

13-36878721-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878721
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878721
    reference: chr 13
allele count: 6
allele frequency: 4.95564695971059e-5
allele num: 121074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1782G>A
  hgvsp: ENST00000355182.4:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.548G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1782G>A
  hgvsp: ENST00000438666.2:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1782G>A
  hgvsp: ENST00000494062.2:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.406G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.259G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1782G>A
  hgvsp: ENST00000451493.1:c.1782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala594Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

13-36878725-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878725
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878725
    reference: chr 13
allele count: 1
allele frequency: 8.26296045347127e-6
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1778C>A
  hgvsp: ENSP00000347314.4:p.Ser593Tyr
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1778C>A
  hgvsp: ENSP00000473599.1:p.Ser593Tyr
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.544C>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.255C>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.402C>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1778C>A
  hgvsp: ENSP00000414147.1:p.Ser593Tyr
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1778C>A
  hgvsp: ENSP00000406061.2:p.Ser593Tyr
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser593Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

13-36878733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878733
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878733
    reference: chr 13
allele count: 3
allele frequency: 2.482128673550437e-5
allele num: 120864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1770G>A
  hgvsp: ENST00000438666.2:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.247G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1770G>A
  hgvsp: ENST00000451493.1:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1770G>A
  hgvsp: ENST00000494062.2:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.394G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.536G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1770G>A
  hgvsp: ENST00000355182.4:c.1770G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala590Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

13-36878734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878734
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878734
    reference: chr 13
allele count: 43
allele frequency: 3.559425856331639e-4
allele num: 120806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.535C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1769C>T
  hgvsp: ENSP00000414147.1:p.Ala590Val
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.393C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.246C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1769C>T
  hgvsp: ENSP00000473599.1:p.Ala590Val
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1769C>T
  hgvsp: ENSP00000347314.4:p.Ala590Val
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1769C>T
  hgvsp: ENSP00000406061.2:p.Ala590Val
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12775
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala590Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

13-36878742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878742
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878742
    reference: chr 13
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1761C>T
  hgvsp: ENST00000451493.1:c.1761C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.527C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.385C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1761C>T
  hgvsp: ENST00000355182.4:c.1761C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1761C>T
  hgvsp: ENST00000494062.2:c.1761C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.238C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1761C>T
  hgvsp: ENST00000438666.2:c.1761C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31368
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42925
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr587Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

13-36878745-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878745
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878745
    reference: chr 13
allele count: 1
allele frequency: 8.325562808045825e-6
allele num: 120112
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1758T>C
  hgvsp: ENST00000451493.1:c.1758T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1758T>C
  hgvsp: ENST00000494062.2:c.1758T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.235T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1758T>C
  hgvsp: ENST00000438666.2:c.1758T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.382T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1758T>C
  hgvsp: ENST00000355182.4:c.1758T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.524T>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8354
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala586Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

13-36878754-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878754
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878754
    reference: chr 13
allele count: 3
allele frequency: 2.522789195734804e-5
allele num: 118916
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.226A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1749A>G
  hgvsp: ENST00000355182.4:c.1749A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1749A>G
  hgvsp: ENST00000438666.2:c.1749A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1749A>G
  hgvsp: ENST00000451493.1:c.1749A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.373A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.515A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1749A>G
  hgvsp: ENST00000494062.2:c.1749A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11997
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala583Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

13-36878758-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878758
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878758
    reference: chr 13
allele count: 9
allele frequency: 7.636956079017039e-5
allele num: 117848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1745A>T
  hgvsp: ENSP00000406061.2:p.Asn582Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.511A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1745A>T
  hgvsp: ENSP00000414147.1:p.Asn582Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1745A>T
  hgvsp: ENSP00000347314.4:p.Asn582Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.222A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1745A>T
  hgvsp: ENSP00000473599.1:p.Asn582Ile
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.369A>T
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11640
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3465
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 9.75e1
  variant carriers: 9
hgvs: p.Asn582Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

13-36878763-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878763
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878763
    reference: chr 13
allele count: 1
allele frequency: 8.619797951936006e-6
allele num: 116012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.217A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1740A>C
  hgvsp: ENST00000438666.2:c.1740A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.364A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.506A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1740A>C
  hgvsp: ENST00000451493.1:c.1740A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1740A>C
  hgvsp: ENST00000355182.4:c.1740A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1740A>C
  hgvsp: ENST00000494062.2:c.1740A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly580Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

13-36878766-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878766
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878766
    reference: chr 13
allele count: 1
allele frequency: 8.679500755116566e-6
allele num: 115214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.214C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1737C>T
  hgvsp: ENST00000494062.2:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1737C>T
  hgvsp: ENST00000451493.1:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1737C>T
  hgvsp: ENST00000355182.4:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.361C>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1737C>T
  hgvsp: ENST00000438666.2:c.1737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.503C>T
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr579Tyr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

13-36878775-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878775
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878775
    reference: chr 13
allele count: 3
allele frequency: 2.685957812555958e-5
allele num: 111692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-6T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-6T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-6T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-6T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-6T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-6T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-6T>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23313
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1734-6T>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

13-36878784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878784
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878784
    reference: chr 13
allele count: 1
allele frequency: 9.353312007781956e-6
allele num: 106914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-15A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-15A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-15A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-15A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-15A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-15A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-15A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17257
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18075
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

13-36878790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878790
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878790
    reference: chr 13
allele count: 1
allele frequency: 9.700073720560276e-6
allele num: 103092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-21C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-21C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-21C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-21C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-21C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-21C>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-21C>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20751
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2548
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3890
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

13-36878791-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878791
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878791
    reference: chr 13
allele count: 1
allele frequency: 9.697439875872769e-6
allele num: 103120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-22T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-22T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-22T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-22T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-22T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-22T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-22T>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3587
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16599
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

13-36878793-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878793
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878793
    reference: chr 13
allele count: 1
allele frequency: 9.809884439561302e-6
allele num: 101938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-24T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-24T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-24T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-24T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-24T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-24T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-24T>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10268
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23579
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

13-36878796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878796
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878796
    reference: chr 13
allele count: 2
allele frequency: 2.017267812474784e-5
allele num: 99144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-27G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-27G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-27G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-27G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-27G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-27G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-27G>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23783
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

13-36878797-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878797
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878797
    reference: chr 13
allele count: 1
allele frequency: 1.006988500191328e-5
allele num: 99306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-28T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-28T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-28T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-28T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-28T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-28T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-28T>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24265
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

13-36878813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878813
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878813
    reference: chr 13
allele count: 1
allele frequency: 1.195342943890602e-5
allele num: 83658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-44A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-44A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-44A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-44A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-44A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-44A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-44A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9291
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

13-36878817-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878817
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878817
    reference: chr 13
allele count: 1
allele frequency: 1.236216189487218e-5
allele num: 80892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-48T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-48T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-48T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-48T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-48T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-48T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-48T>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4888
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS

13-36878818-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36878818
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36878818
    reference: chr 13
allele count: 1
allele frequency: 1.281624074026607e-5
allele num: 78026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1734-49A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.358-49A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1734-49A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.500-49A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1734-49A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1734-49A>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.211-49A>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18185
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4808
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

13-36886242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886242
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886242
    reference: chr 13
allele count: 1
allele frequency: 8.558419773373044e-6
allele num: 116844
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+40G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+40G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+40G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+40G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+40G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+40G>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+40G>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10518
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10053
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/13-36886244-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886244
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886244
    reference: chr 13
allele count: 405
allele frequency: 3.456693182206138e-3
allele num: 117164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+38T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+38T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+38T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+38T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+38T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+38T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+38T>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 3.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 1.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 2.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21670
  bin: 2.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6185
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 2
num of homozygotes: 6
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/13-36886245-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886245
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886245
    reference: chr 13
allele count: 1
allele frequency: 8.530094172239662e-6
allele num: 117232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+37T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+37T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+37T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+37T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+37T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+37T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+37T>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

13-36886246-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886246
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886246
    reference: chr 13
allele count: 9
allele frequency: 7.663748765284922e-5
allele num: 117436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+36T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+36T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+36T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+36T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+36T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+36T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+36T>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22497
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-36886250-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886250
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886250
    reference: chr 13
allele count: 1
allele frequency: 8.482339768601771e-6
allele num: 117892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+32T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+32T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+32T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+32T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+32T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+32T>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+32T>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10154
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

13-36886256-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886256
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886256
    reference: chr 13
allele count: 2
allele frequency: 1.686710408689932e-5
allele num: 118574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+26T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+26T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+26T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+26T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+26T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+26T>A
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+26T>A
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10175
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

13-36886260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886260
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886260
    reference: chr 13
allele count: 1
allele frequency: 8.385322331790435e-6
allele num: 119256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+22T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+22T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+22T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+22T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+22T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+22T>C
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+22T>C
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-36886261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886261
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886261
    reference: chr 13
allele count: 1
allele frequency: 8.377314233056882e-6
allele num: 119370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+21A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+21A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+21A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+21A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+21A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+21A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+21A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

13-36886272-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886272
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886272
    reference: chr 13
allele count: 1
allele frequency: 8.301648707433296e-6
allele num: 120458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1733+10A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1733+10A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.357+10A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.499+10A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1733+10A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1733+10A>G
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.184+10A>G
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

13-36886283-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 36886283
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 36886283
    reference: chr 13
allele count: 1
allele frequency: 8.26541913940456e-6
allele num: 120986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000460126
  gene symbol: SPG20
  hgvsc: ENST00000460126.1:n.183A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000475603
  gene symbol: SPG20
  hgvsc: ENST00000475603.1:n.498A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000347314
  ensembl transcript: ENST00000355182
  gene symbol: SPG20
  hgvsc: ENST00000355182.4:c.1732A>T
  hgvsp: ENSP00000347314.4:p.Lys578Ter
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000491805
  gene symbol: SPG20
  hgvsc: ENST00000491805.1:n.356A>T
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000473599
  ensembl transcript: ENST00000494062
  gene symbol: SPG20
  hgvsc: ENST00000494062.2:c.1732A>T
  hgvsp: ENSP00000473599.1:p.Lys578Ter
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000406061
  ensembl transcript: ENST00000438666
  gene symbol: SPG20
  hgvsc: ENST00000438666.2:c.1732A>T
  hgvsp: ENSP00000406061.2:p.Lys578Ter
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000133104
  ensembl protein: ENSP00000414147
  ensembl transcript: ENST00000451493
  gene symbol: SPG20
  hgvsc: ENST00000451493.1:c.1732A>T
  hgvsp: ENSP00000414147.1:p.Lys578Ter
  variant of: http://identifiers.org/hgnc/18514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000133104
  ensembl transcript: ENST00000482146
  gene symbol: SPG20
  hgvsc: ENST00000482146.1:n.579A>T
  variant of: http://identifiers.org/hgnc/18514
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys578Ter
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum

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

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

GenotypeQuality
all individuals: 43333
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.848134e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.66e0

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

QD
type: SiteQuality
SIO_000300: 1.656e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

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

GenotypeQuality
all individuals: 2938
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 1.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.848097e6

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

GenotypeQuality
all individuals: 1895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2934
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 1142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 7.25e1
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.198861081972126e-4
allele num: 66730
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Finnish)
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allele count: 9
allele frequency: 1.360749924402782e-3
allele num: 6614
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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InbreedingCoeff
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SIO_000300: -4.0e-4

BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.276e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.85e-1

GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
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African
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allele frequency: 9.613535858488752e-5
allele num: 10402
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Latino
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QD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.416e0

VQSLOD
type: SiteQuality
SIO_000300: -2.015e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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South Asian
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allele num: 16508
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Other
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MQ
type: SiteQuality
SIO_000300: 6.05e1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.35e-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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variant carriers: 0

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

Other
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Latino
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allele frequency: 0.0e0
allele num: 11572
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 5.768121515093252e-4
allele num: 10402
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East Asian
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
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DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.767e0

MQ
type: SiteQuality
SIO_000300: 5.758e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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Other
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South Asian
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.37e0

MQRankSum
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SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.767e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.542e0

FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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Other
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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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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European (Finnish)
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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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Latino
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Other
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ClippingRankSum
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SIO_000300: 1.17e0

VQSLOD
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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SIO_000300: 2.691e0

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

South Asian
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BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

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

European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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Latino
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European (Finnish)
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQ
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10404
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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allele num: 11556
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Other
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 6.069013351829374e-4
allele num: 11534
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 5.99592277251469e-5
allele num: 66712
num of homozygotes: 0

VQSLOD
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MQ
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DP
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FS
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.665511265164645e-5
allele num: 11540
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East Asian
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African
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VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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African
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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FS
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10404
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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Latino
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Other
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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FS
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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Latino
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele num: 10404
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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DP
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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FS
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MQRankSum
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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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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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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FS
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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African
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QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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FS
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QD
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66730
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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Other
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16510
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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European (Non-Finnish)
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allele num: 66728
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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DP
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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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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allele num: 10404
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66724
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 1.173e0

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

European (Finnish)
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allele frequency: 0.0e0
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Other
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African
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.886e0

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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DP
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
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allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Other
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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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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variant carriers: 0

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

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

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

Latino
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East Asian
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Other
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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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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Other
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allele num: 908
num of homozygotes: 0

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

East Asian
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South Asian
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allele num: 16510
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ClippingRankSum
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FS
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DP
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Other
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Latino
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European (Finnish)
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East Asian
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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South Asian
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East Asian
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Latino
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

DP
type: SiteQuality
SIO_000300: 1.835592e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
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SIO_000300: 1.217e1

FS
type: SiteQuality
SIO_000300: 2.092e0

MQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.095e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.891e1

FS
type: SiteQuality
SIO_000300: 3.231e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.8e-1

QD
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.864e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
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: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 4.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
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SIO_000300: 1.321e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.366e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.526e0

DP
type: SiteQuality
SIO_000300: 1.834648e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 8603
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

DP
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SIO_000300: 1.833381e6

FS
type: SiteQuality
SIO_000300: 3.68e0

VQSLOD
type: SiteQuality
SIO_000300: 7.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.01e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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: 15
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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: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

East Asian
type: Population
allele count: 12
allele frequency: 1.386962552011096e-3
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

DP
type: SiteQuality
SIO_000300: 1.833037e6

MQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.462e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.32e-1

GenotypeQuality
all individuals: 43341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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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: 616
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

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

African
type: Population
allele count: 53
allele frequency: 5.096153846153846e-3
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

FS
type: SiteQuality
SIO_000300: 7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 1.832214e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.54e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

VQSLOD
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FS
type: SiteQuality
SIO_000300: 7.51e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.832214e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 1.475e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.608695652173913e-4
allele num: 11500
num of homozygotes: 0

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

African
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allele count: 0
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South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
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FS
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

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

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
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East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
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Other
type: Population
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South Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.825428e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.641e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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Latino
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.509988284418276e-5
allele num: 66578
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

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

FS
type: SiteQuality
SIO_000300: 2.406e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 1.473e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.893e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.276e0

DP
type: SiteQuality
SIO_000300: 1.821572e6

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
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South Asian
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allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.476e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-1

FS
type: SiteQuality
SIO_000300: 5.742e0

VQSLOD
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BaseQRankSum
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DP
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MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

East Asian
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allele count: 40
allele frequency: 4.637143519591932e-3
allele num: 8626
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.011685339115769e-5
allele num: 66408
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11416
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
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SIO_000300: -3.65e0

QD
type: SiteQuality
SIO_000300: 1.338e1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

DP
type: SiteQuality
SIO_000300: 1.816436e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6578
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10362
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.513225591671206e-5
allele num: 66084
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8584
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Other
type: Population
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -1.756e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.88e1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.836884643644379e-4
allele num: 16332
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8482
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: 3.09e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16248
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64438
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 8.783915674409526e-4
allele num: 10246
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
SIO_000300: 5.956e1

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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European (Non-Finnish)
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allele num: 63288
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Latino
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Other
type: Population
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QD
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FS
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10822
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5927624872579e-5
allele num: 62784
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.675585e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

FS
type: SiteQuality
SIO_000300: 1.181e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.949841605068638e-5
allele num: 60608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

FS
type: SiteQuality
SIO_000300: 7.152e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

DP
type: SiteQuality
SIO_000300: 1.572589e6

MQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.268e1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.496037417175523e-5
allele num: 15394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.422885e6

VQSLOD
type: SiteQuality
SIO_000300: 7.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 1.195e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.251e0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55562
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5964
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.446759259259259e-4
allele num: 6912
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.279829e6

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

VQSLOD
type: SiteQuality
SIO_000300: -1.599e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.468e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.798431767498741e-5
allele num: 55604
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5968
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 1.278634e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.820763992571283e-5
allele num: 54922
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9178
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.356483993488877e-4
allele num: 14744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.51e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.039e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.16911e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.875187518751875e-5
allele num: 53328
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.276141484954705e-5
allele num: 43934
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.364066193853428e-5
allele num: 42300
num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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QD
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 529
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7108
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.459782555222118e-5
allele num: 40654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.097e0

DP
type: SiteQuality
SIO_000300: 9.96879e5

QD
type: SiteQuality
SIO_000300: 8.99e0

VQSLOD
type: SiteQuality
SIO_000300: -3.74e-1

GenotypeQuality
all individuals: 5998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2611
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2042
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562402349853134e-5
allele num: 64004
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.747204e6

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.97e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.129e0

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

GenotypeQuality
all individuals: 20819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1443
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 10391
bin: 9.75e1
variant carriers: 392

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3460
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2683
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 6
allele frequency: 6.741573033707865e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.82881086638213e-4
allele num: 64198
num of homozygotes: 0

African
type: Population
allele count: 320
allele frequency: 3.262642740619902e-2
allele num: 9808
num of homozygotes: 5

Latino
type: Population
allele count: 47
allele frequency: 4.185963662272889e-3
allele num: 11228
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.8e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.765297e6

QD
type: SiteQuality
SIO_000300: 1.598e1

GenotypeQuality
all individuals: 1234
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21194
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1469
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
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variant carriers: 0

GenotypeQuality
all individuals: 10106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556517137253681e-5
allele num: 64246
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

DP
type: SiteQuality
SIO_000300: 1.768811e6

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.308e0

GenotypeQuality
all individuals: 1474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1128
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2768
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10118
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 61
bin: 1.75e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64364
num of homozygotes: 0

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

Latino
type: Population
allele count: 8
allele frequency: 7.106057914372002e-4
allele num: 11258
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.391e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

FS
type: SiteQuality
SIO_000300: 9.071999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.917e1

QD
type: SiteQuality
SIO_000300: 1.231e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 1.773978e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

GenotypeQuality
all individuals: 603
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
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variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3706
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546503355912282e-5
allele num: 64662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.800978e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

QD
type: SiteQuality
SIO_000300: 1.84e1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 6908
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2741
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 1243
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variant carriers: 0

GenotypeQuality
all individuals: 309
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GenotypeQuality
all individuals: 3805
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variant carriers: 0

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65102
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.385496183206107e-4
allele num: 8384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.4e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.831744e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 1291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1582
bin: 9.25e1
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GenotypeQuality
all individuals: 3922
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GenotypeQuality
all individuals: 183
bin: 4.75e1
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GenotypeQuality
all individuals: 214
bin: 5.75e1
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GenotypeQuality
all individuals: 3021
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.25e1
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GenotypeQuality
all individuals: 2867
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10219
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.789e0

QD
type: SiteQuality
SIO_000300: 1.121e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

DP
type: SiteQuality
SIO_000300: 1.849631e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 2886
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
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GenotypeQuality
all individuals: 15
bin: 1.75e1
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GenotypeQuality
all individuals: 7140
bin: 6.75e1
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GenotypeQuality
all individuals: 1590
bin: 9.25e1
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GenotypeQuality
all individuals: 10222
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variant carriers: 1

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65606
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: 6566
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 1.85256e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

FS
type: SiteQuality
SIO_000300: 3.452e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

QD
type: SiteQuality
SIO_000300: 1.147e1

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29027
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1325
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GenotypeQuality
all individuals: 4009
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GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.87464e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

QD
type: SiteQuality
SIO_000300: 1.501e1

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1341
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3101
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29605
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1