2-71730353-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730353
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730353
    reference: chr 2
allele count: 7
allele frequency: 5.774624649397789e-5
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.246G>C
  hgvsp: ENST00000258104.3:c.246G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.249G>C
  hgvsp: ENST00000409651.1:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.246G>C
  hgvsp: ENST00000429174.2:c.246G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.249G>C
  hgvsp: ENST00000409744.1:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.249G>C
  hgvsp: ENST00000410020.3:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.246G>C
  hgvsp: ENST00000413539.2:c.246G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.249G>C
  hgvsp: ENST00000394120.2:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.246G>C
  hgvsp: ENST00000409582.3:c.246G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.246G>C
  hgvsp: ENST00000409762.1:c.246G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.249G>C
  hgvsp: ENST00000410041.1:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.249G>C
  hgvsp: ENST00000409366.1:c.249G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly83Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

2-71730358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730358
    reference: chr 2
allele count: 3
allele frequency: 2.474185992808366e-5
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.254C>T
  hgvsp: ENSP00000377678.2:p.Ala85Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.254C>T
  hgvsp: ENSP00000386285.1:p.Ala85Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.251C>T
  hgvsp: ENSP00000398305.2:p.Ala84Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.254C>T
  hgvsp: ENSP00000386881.3:p.Ala85Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.254C>T
  hgvsp: ENSP00000386512.1:p.Ala85Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.254C>T
  hgvsp: ENSP00000386683.1:p.Ala85Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.251C>T
  hgvsp: ENSP00000407046.2:p.Ala84Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.251C>T
  hgvsp: ENSP00000258104.3:p.Ala84Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.251C>T
  hgvsp: ENSP00000386547.3:p.Ala84Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.254C>T
  hgvsp: ENSP00000386617.1:p.Ala85Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.251C>T
  hgvsp: ENSP00000387137.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala85Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-71730359-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730359
    reference: chr 2
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.255C>G
  hgvsp: ENST00000410041.1:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.255C>G
  hgvsp: ENST00000409651.1:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.252C>G
  hgvsp: ENST00000413539.2:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.255C>G
  hgvsp: ENST00000409744.1:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.255C>G
  hgvsp: ENST00000409366.1:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.252C>G
  hgvsp: ENST00000258104.3:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.255C>G
  hgvsp: ENST00000410020.3:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.252C>G
  hgvsp: ENST00000409762.1:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.255C>G
  hgvsp: ENST00000394120.2:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.252C>G
  hgvsp: ENST00000429174.2:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.252C>G
  hgvsp: ENST00000409582.3:c.252C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala85Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-71730373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730373
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.269G>A
  hgvsp: ENSP00000386285.1:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.266G>A
  hgvsp: ENSP00000407046.2:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.266G>A
  hgvsp: ENSP00000386547.3:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.266G>A
  hgvsp: ENSP00000387137.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.266G>A
  hgvsp: ENSP00000398305.2:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.266G>A
  hgvsp: ENSP00000258104.3:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.269G>A
  hgvsp: ENSP00000386881.3:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.269G>A
  hgvsp: ENSP00000377678.2:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.269G>A
  hgvsp: ENSP00000386512.1:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.269G>A
  hgvsp: ENSP00000386617.1:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.269G>A
  hgvsp: ENSP00000386683.1:p.Arg90Gln
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg90Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-71730381-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730381
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730381
    reference: chr 2
allele count: 2
allele frequency: 1.648505629646725e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.277C>T
  hgvsp: ENSP00000386285.1:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.274C>T
  hgvsp: ENSP00000386547.3:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.274C>T
  hgvsp: ENSP00000407046.2:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.277C>T
  hgvsp: ENSP00000386512.1:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.277C>T
  hgvsp: ENSP00000386881.3:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.274C>T
  hgvsp: ENSP00000258104.3:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.277C>T
  hgvsp: ENSP00000386617.1:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.277C>T
  hgvsp: ENSP00000386683.1:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.274C>T
  hgvsp: ENSP00000387137.1:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.274C>T
  hgvsp: ENSP00000398305.2:p.Leu92Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.277C>T
  hgvsp: ENSP00000377678.2:p.Leu93Phe
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8293
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu93Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-71730383-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730383
    reference: chr 2
allele count: 12
allele frequency: 9.890544639324805e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.279C>T
  hgvsp: ENST00000409366.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.276C>T
  hgvsp: ENST00000409582.3:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.279C>T
  hgvsp: ENST00000409744.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.279C>T
  hgvsp: ENST00000410041.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.276C>T
  hgvsp: ENST00000409762.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.276C>T
  hgvsp: ENST00000429174.2:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.279C>T
  hgvsp: ENST00000409651.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.279C>T
  hgvsp: ENST00000410020.3:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.276C>T
  hgvsp: ENST00000258104.3:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.279C>T
  hgvsp: ENST00000394120.2:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.276C>T
  hgvsp: ENST00000413539.2:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu93Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-71730384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730384
    reference: chr 2
allele count: 5
allele frequency: 4.121060266385336e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.280G>A
  hgvsp: ENSP00000377678.2:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.280G>A
  hgvsp: ENSP00000386683.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.280G>A
  hgvsp: ENSP00000386617.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.280G>A
  hgvsp: ENSP00000386881.3:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.277G>A
  hgvsp: ENSP00000398305.2:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.277G>A
  hgvsp: ENSP00000387137.1:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.280G>A
  hgvsp: ENSP00000386512.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.280G>A
  hgvsp: ENSP00000386285.1:p.Ala94Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.277G>A
  hgvsp: ENSP00000407046.2:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.277G>A
  hgvsp: ENSP00000258104.3:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.277G>A
  hgvsp: ENSP00000386547.3:p.Ala93Thr
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala94Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-71730384-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730384
    reference: chr 2
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.277G>C
  hgvsp: ENSP00000387137.1:p.Ala93Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.277G>C
  hgvsp: ENSP00000258104.3:p.Ala93Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.280G>C
  hgvsp: ENSP00000386881.3:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.280G>C
  hgvsp: ENSP00000386285.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.280G>C
  hgvsp: ENSP00000377678.2:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.277G>C
  hgvsp: ENSP00000398305.2:p.Ala93Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.277G>C
  hgvsp: ENSP00000407046.2:p.Ala93Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.277G>C
  hgvsp: ENSP00000386547.3:p.Ala93Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.280G>C
  hgvsp: ENSP00000386683.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.280G>C
  hgvsp: ENSP00000386617.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.280G>C
  hgvsp: ENSP00000386512.1:p.Ala94Pro
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala94Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-71730391-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730391
    reference: chr 2
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.284C>G
  hgvsp: ENSP00000407046.2:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.287C>G
  hgvsp: ENSP00000386285.1:p.Pro96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.284C>G
  hgvsp: ENSP00000258104.3:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.284C>G
  hgvsp: ENSP00000386547.3:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.287C>G
  hgvsp: ENSP00000386881.3:p.Pro96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.287C>G
  hgvsp: ENSP00000386512.1:p.Pro96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.287C>G
  hgvsp: ENSP00000386683.1:p.Pro96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.284C>G
  hgvsp: ENSP00000387137.1:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.284C>G
  hgvsp: ENSP00000398305.2:p.Pro95Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.287C>G
  hgvsp: ENSP00000386617.1:p.Pro96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.287C>G
  hgvsp: ENSP00000377678.2:p.Pro96Arg
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro96Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-71730393-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730393
    reference: chr 2
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.289A>C
  hgvsp: ENSP00000386285.1:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.289A>C
  hgvsp: ENSP00000386881.3:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.289A>C
  hgvsp: ENSP00000386683.1:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.286A>C
  hgvsp: ENSP00000407046.2:p.Ser96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.286A>C
  hgvsp: ENSP00000258104.3:p.Ser96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.289A>C
  hgvsp: ENSP00000386512.1:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.286A>C
  hgvsp: ENSP00000398305.2:p.Ser96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.289A>C
  hgvsp: ENSP00000386617.1:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.286A>C
  hgvsp: ENSP00000387137.1:p.Ser96Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.289A>C
  hgvsp: ENSP00000377678.2:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.286A>C
  hgvsp: ENSP00000386547.3:p.Ser96Arg
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser97Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

2-71730401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730401
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.297C>T
  hgvsp: ENST00000409366.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.297C>T
  hgvsp: ENST00000394120.2:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.294C>T
  hgvsp: ENST00000413539.2:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.294C>T
  hgvsp: ENST00000258104.3:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.297C>T
  hgvsp: ENST00000410041.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.294C>T
  hgvsp: ENST00000429174.2:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.297C>T
  hgvsp: ENST00000409744.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.297C>T
  hgvsp: ENST00000409651.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.294C>T
  hgvsp: ENST00000409762.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.297C>T
  hgvsp: ENST00000410020.3:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.294C>T
  hgvsp: ENST00000409582.3:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser99Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

2-71730402-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730402
    reference: chr 2
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.295G>T
  hgvsp: ENSP00000387137.1:p.Ala99Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.295G>T
  hgvsp: ENSP00000398305.2:p.Ala99Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.298G>T
  hgvsp: ENSP00000386512.1:p.Ala100Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.298G>T
  hgvsp: ENSP00000386683.1:p.Ala100Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.295G>T
  hgvsp: ENSP00000407046.2:p.Ala99Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.298G>T
  hgvsp: ENSP00000386881.3:p.Ala100Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.298G>T
  hgvsp: ENSP00000386285.1:p.Ala100Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.298G>T
  hgvsp: ENSP00000386617.1:p.Ala100Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.295G>T
  hgvsp: ENSP00000258104.3:p.Ala99Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.295G>T
  hgvsp: ENSP00000386547.3:p.Ala99Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.298G>T
  hgvsp: ENSP00000377678.2:p.Ala100Ser
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala100Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-71730412-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730412
    reference: chr 2
allele count: 31
allele frequency: 2.55480468106148e-4
allele num: 121340
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.308A>G
  hgvsp: ENSP00000386683.1:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.308A>G
  hgvsp: ENSP00000386285.1:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.305A>G
  hgvsp: ENSP00000386547.3:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.308A>G
  hgvsp: ENSP00000386512.1:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.305A>G
  hgvsp: ENSP00000387137.1:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.308A>G
  hgvsp: ENSP00000386881.3:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.305A>G
  hgvsp: ENSP00000398305.2:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.305A>G
  hgvsp: ENSP00000407046.2:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.305A>G
  hgvsp: ENSP00000258104.3:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.308A>G
  hgvsp: ENSP00000386617.1:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.308A>G
  hgvsp: ENSP00000377678.2:p.Asn103Ser
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn103Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-71730415-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730415
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.308C>A
  hgvsp: ENSP00000386547.3:p.Ala103Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.308C>A
  hgvsp: ENSP00000387137.1:p.Ala103Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.308C>A
  hgvsp: ENSP00000398305.2:p.Ala103Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.308C>A
  hgvsp: ENSP00000407046.2:p.Ala103Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.311C>A
  hgvsp: ENSP00000377678.2:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.311C>A
  hgvsp: ENSP00000386512.1:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.311C>A
  hgvsp: ENSP00000386285.1:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.311C>A
  hgvsp: ENSP00000386683.1:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.311C>A
  hgvsp: ENSP00000386617.1:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.311C>A
  hgvsp: ENSP00000386881.3:p.Ala104Asp
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.308C>A
  hgvsp: ENSP00000258104.3:p.Ala103Asp
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala104Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-71730416-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730416
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730416
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.312C>G
  hgvsp: ENST00000409651.1:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.309C>G
  hgvsp: ENST00000429174.2:c.309C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.309C>G
  hgvsp: ENST00000409582.3:c.309C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.312C>G
  hgvsp: ENST00000410020.3:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.312C>G
  hgvsp: ENST00000394120.2:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.309C>G
  hgvsp: ENST00000413539.2:c.309C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.312C>G
  hgvsp: ENST00000409366.1:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.309C>G
  hgvsp: ENST00000258104.3:c.309C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.312C>G
  hgvsp: ENST00000410041.1:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.312C>G
  hgvsp: ENST00000409744.1:c.312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.309C>G
  hgvsp: ENST00000409762.1:c.309C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala104Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-71730420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730420
    reference: chr 2
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.316C>T
  hgvsp: ENST00000410041.1:c.316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.313C>T
  hgvsp: ENST00000429174.2:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.316C>T
  hgvsp: ENST00000394120.2:c.316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.316C>T
  hgvsp: ENST00000409651.1:c.316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.316C>T
  hgvsp: ENST00000409366.1:c.316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.313C>T
  hgvsp: ENST00000413539.2:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.313C>T
  hgvsp: ENST00000409582.3:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.313C>T
  hgvsp: ENST00000258104.3:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.316C>T
  hgvsp: ENST00000409744.1:c.316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.313C>T
  hgvsp: ENST00000409762.1:c.313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.316C>T
  hgvsp: ENST00000410020.3:c.316C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu106Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/2-71730438-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730438
    reference: chr 2
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.331C>A
  hgvsp: ENSP00000386547.3:p.Gln111Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.334C>A
  hgvsp: ENSP00000386285.1:p.Gln112Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.334C>A
  hgvsp: ENSP00000386881.3:p.Gln112Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.331C>A
  hgvsp: ENSP00000407046.2:p.Gln111Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.334C>A
  hgvsp: ENSP00000377678.2:p.Gln112Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.331C>A
  hgvsp: ENSP00000398305.2:p.Gln111Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.334C>A
  hgvsp: ENSP00000386683.1:p.Gln112Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.331C>A
  hgvsp: ENSP00000387137.1:p.Gln111Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.331C>A
  hgvsp: ENSP00000258104.3:p.Gln111Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.334C>A
  hgvsp: ENSP00000386617.1:p.Gln112Lys
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.334C>A
  hgvsp: ENSP00000386512.1:p.Gln112Lys
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln112Lys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-71730441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730441
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730441
    reference: chr 2
allele count: 12
allele frequency: 9.893480196550473e-5
allele num: 121292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.334C>T
  hgvsp: ENSP00000386547.3:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.337C>T
  hgvsp: ENSP00000386285.1:p.Pro113Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.334C>T
  hgvsp: ENSP00000407046.2:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.337C>T
  hgvsp: ENSP00000386683.1:p.Pro113Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.337C>T
  hgvsp: ENSP00000377678.2:p.Pro113Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.337C>T
  hgvsp: ENSP00000386881.3:p.Pro113Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.334C>T
  hgvsp: ENSP00000398305.2:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.334C>T
  hgvsp: ENSP00000258104.3:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.337C>T
  hgvsp: ENSP00000386617.1:p.Pro113Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.334C>T
  hgvsp: ENSP00000387137.1:p.Pro112Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.337C>T
  hgvsp: ENSP00000386512.1:p.Pro113Ser
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro113Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-71730445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730445
    reference: chr 2
allele count: 8
allele frequency: 6.596197292261011e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.338C>T
  hgvsp: ENSP00000407046.2:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.341C>T
  hgvsp: ENSP00000377678.2:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.341C>T
  hgvsp: ENSP00000386881.3:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.338C>T
  hgvsp: ENSP00000258104.3:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.341C>T
  hgvsp: ENSP00000386285.1:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.341C>T
  hgvsp: ENSP00000386512.1:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.341C>T
  hgvsp: ENSP00000386683.1:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.338C>T
  hgvsp: ENSP00000387137.1:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.341C>T
  hgvsp: ENSP00000386617.1:p.Thr114Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.338C>T
  hgvsp: ENSP00000398305.2:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.338C>T
  hgvsp: ENSP00000386547.3:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr114Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-71730448-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730448
    reference: chr 2
allele count: 2
allele frequency: 1.649212501030758e-5
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.341G>C
  hgvsp: ENSP00000407046.2:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.341G>C
  hgvsp: ENSP00000386547.3:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.344G>C
  hgvsp: ENSP00000386683.1:p.Gly115Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.341G>C
  hgvsp: ENSP00000398305.2:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.344G>C
  hgvsp: ENSP00000386512.1:p.Gly115Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.341G>C
  hgvsp: ENSP00000258104.3:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.344G>C
  hgvsp: ENSP00000377678.2:p.Gly115Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.344G>C
  hgvsp: ENSP00000386881.3:p.Gly115Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.341G>C
  hgvsp: ENSP00000387137.1:p.Gly114Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.344G>C
  hgvsp: ENSP00000386617.1:p.Gly115Ala
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.344G>C
  hgvsp: ENSP00000386285.1:p.Gly115Ala
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly115Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-71730448-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730448
    reference: chr 2
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.344G>T
  hgvsp: ENSP00000386512.1:p.Gly115Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.344G>T
  hgvsp: ENSP00000386617.1:p.Gly115Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.341G>T
  hgvsp: ENSP00000386547.3:p.Gly114Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.341G>T
  hgvsp: ENSP00000407046.2:p.Gly114Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.341G>T
  hgvsp: ENSP00000398305.2:p.Gly114Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.344G>T
  hgvsp: ENSP00000386683.1:p.Gly115Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.344G>T
  hgvsp: ENSP00000386881.3:p.Gly115Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.341G>T
  hgvsp: ENSP00000258104.3:p.Gly114Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.344G>T
  hgvsp: ENSP00000386285.1:p.Gly115Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.344G>T
  hgvsp: ENSP00000377678.2:p.Gly115Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.341G>T
  hgvsp: ENSP00000387137.1:p.Gly114Val
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly115Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-71730448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730448
    reference: chr 2
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.344G>A
  hgvsp: ENSP00000386881.3:p.Gly115Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.341G>A
  hgvsp: ENSP00000386547.3:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.344G>A
  hgvsp: ENSP00000386285.1:p.Gly115Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.341G>A
  hgvsp: ENSP00000387137.1:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.341G>A
  hgvsp: ENSP00000407046.2:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.344G>A
  hgvsp: ENSP00000377678.2:p.Gly115Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.344G>A
  hgvsp: ENSP00000386683.1:p.Gly115Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.341G>A
  hgvsp: ENSP00000258104.3:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.344G>A
  hgvsp: ENSP00000386512.1:p.Gly115Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.344G>A
  hgvsp: ENSP00000386617.1:p.Gly115Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.341G>A
  hgvsp: ENSP00000398305.2:p.Gly114Glu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly115Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

2-71730457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730457
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730457
    reference: chr 2
allele count: 5
allele frequency: 4.123507290360889e-5
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+8C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+8C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.345+8C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-71730459-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730458
    reference: chr 2
allele count: 2
allele frequency: 1.649430121892886e-5
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+11delA
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+11delA
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: CA
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-71730460-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730460
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730460
    reference: chr 2
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+11A>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+11A>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD

2-71730461-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730461
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730461
    reference: chr 2
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+12T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+12T>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4303
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-71730464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730464
    reference: chr 2
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+15G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+15G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

2-71730466-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730466
    reference: chr 2
allele count: 7
allele frequency: 5.775672865888876e-5
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+17C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+17C>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-71730466-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730466
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+17C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

2-71730470-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730470
    reference: chr 2
allele count: 2
allele frequency: 1.650709805216243e-5
allele num: 121160
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+21G>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+21G>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-71730471-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730471
    reference: chr 2
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+22C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+22C>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3901
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-71730471-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730471
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730471
    reference: chr 2
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+22C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+22C>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-71730475-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730475
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730475
    reference: chr 2
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+26G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+26G>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-71730487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730487
    reference: chr 2
allele count: 3
allele frequency: 2.479707725116133e-5
allele num: 120982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+38G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+38G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-71730498-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71730498
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71730498
    reference: chr 2
allele count: 4
allele frequency: 3.313836926084867e-5
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.342+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.345+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.345+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.345+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.342+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.342+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.345+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.342+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.345+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.345+49G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.342+49G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

2-71738893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738893
    reference: chr 2
allele count: 1
allele frequency: 4.826720725938797e-5
allele num: 20718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.343-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.343-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.343-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.343-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.346-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.346-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.343-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.346-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.346-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.346-44G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.346-44G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-71738895-G-GGGCAGTGGTCCGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738895
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738909
    reference: chr 2
allele count: 214
allele frequency: 1.031027172865677e-2
allele num: 20756
alternate allele: GGGCAGTGGTCCGAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 7.5e0
  variant carriers: 2
num of homozygotes: 10
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-71738896-G-GTTTATAGATGAGGAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738896
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738912
    reference: chr 2
allele count: 1
allele frequency: 4.914487910359741e-5
allele num: 20348
alternate allele: GTTTATAGATGAGGAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

2-71738897-C-CTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738934
    reference: chr 2
allele count: 1
allele frequency: 4.865706500583885e-5
allele num: 20552
alternate allele: CTGAGGCACAGGGCGGTCACAGATCTTGCCTAAGGTCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

2-71738902-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738902
    reference: chr 2
allele count: 2
allele frequency: 9.632055480639569e-5
allele num: 20764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.346-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.346-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.343-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.343-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.346-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.343-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.346-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.343-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.346-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.346-35G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.343-35G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

2-71738908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738908
    reference: chr 2
allele count: 77
allele frequency: 3.703703703703704e-3
allele num: 20790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.346-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.343-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.343-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.346-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.346-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.343-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.346-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.343-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.346-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.343-29A>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.346-29A>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7740
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 2
num of homozygotes: 3
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

2-71738915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738915
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738915
    reference: chr 2
allele count: 1
allele frequency: 4.809079542175627e-5
allele num: 20794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.343-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.346-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.346-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.346-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.343-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.346-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.343-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.346-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.343-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.346-22C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.343-22C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

2-71738920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738920
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738920
    reference: chr 2
allele count: 6
allele frequency: 2.883506343713956e-4
allele num: 20808
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.346-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.343-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.346-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.346-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.343-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.346-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.346-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.343-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.346-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.343-17C>T
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.343-17C>T
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-71738921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738921
    reference: chr 2
allele count: 2
allele frequency: 9.610764055742432e-5
allele num: 20810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.343-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.346-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.343-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.346-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.346-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.346-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.343-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.343-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.343-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.346-16G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.346-16G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-71738941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738941
    reference: chr 2
allele count: 3
allele frequency: 1.436643999616895e-4
allele num: 20882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.347C>T
  hgvsp: ENSP00000387137.1:p.Ser116Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.350C>T
  hgvsp: ENSP00000386683.1:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.347C>T
  hgvsp: ENSP00000258104.3:p.Ser116Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.350C>T
  hgvsp: ENSP00000386285.1:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.350C>T
  hgvsp: ENSP00000386617.1:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.347C>T
  hgvsp: ENSP00000398305.2:p.Ser116Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.350C>T
  hgvsp: ENSP00000386881.3:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.347C>T
  hgvsp: ENSP00000407046.2:p.Ser116Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.350C>T
  hgvsp: ENSP00000377678.2:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.347C>T
  hgvsp: ENSP00000386547.3:p.Ser116Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.350C>T
  hgvsp: ENSP00000386512.1:p.Ser117Leu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser117Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-71738959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738959
    reference: chr 2
allele count: 1
allele frequency: 4.78148608587549e-5
allele num: 20914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.368C>T
  hgvsp: ENSP00000377678.2:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.368C>T
  hgvsp: ENSP00000386285.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.368C>T
  hgvsp: ENSP00000386617.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.368C>T
  hgvsp: ENSP00000386881.3:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.365C>T
  hgvsp: ENSP00000258104.3:p.Ser122Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.368C>T
  hgvsp: ENSP00000386512.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.365C>T
  hgvsp: ENSP00000386547.3:p.Ser122Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.365C>T
  hgvsp: ENSP00000398305.2:p.Ser122Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.365C>T
  hgvsp: ENSP00000407046.2:p.Ser122Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.365C>T
  hgvsp: ENSP00000387137.1:p.Ser122Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.368C>T
  hgvsp: ENSP00000386683.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17050
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser123Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

2-71738968-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738968
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738968
    reference: chr 2
allele count: 1
allele frequency: 4.776917932549919e-5
allele num: 20934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.377C>T
  hgvsp: ENSP00000377678.2:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.377C>T
  hgvsp: ENSP00000386512.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.377C>T
  hgvsp: ENSP00000386683.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.377C>T
  hgvsp: ENSP00000386617.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.374C>T
  hgvsp: ENSP00000398305.2:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.377C>T
  hgvsp: ENSP00000386285.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.374C>T
  hgvsp: ENSP00000386547.3:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.374C>T
  hgvsp: ENSP00000407046.2:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.374C>T
  hgvsp: ENSP00000258104.3:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.377C>T
  hgvsp: ENSP00000386881.3:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.374C>T
  hgvsp: ENSP00000387137.1:p.Pro125Leu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro126Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-71738969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738969
    reference: chr 2
allele count: 1
allele frequency: 4.780114722753346e-5
allele num: 20920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.378G>A
  hgvsp: ENST00000394120.2:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.375G>A
  hgvsp: ENST00000429174.2:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.375G>A
  hgvsp: ENST00000409582.3:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.375G>A
  hgvsp: ENST00000258104.3:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.375G>A
  hgvsp: ENST00000413539.2:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.378G>A
  hgvsp: ENST00000409651.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.375G>A
  hgvsp: ENST00000409762.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.378G>A
  hgvsp: ENST00000409366.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.378G>A
  hgvsp: ENST00000409744.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.378G>A
  hgvsp: ENST00000410041.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.378G>A
  hgvsp: ENST00000410020.3:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18233
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro126Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-71738969-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738969
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738969
    reference: chr 2
allele count: 3
allele frequency: 1.434034416826004e-4
allele num: 20920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.378G>T
  hgvsp: ENST00000409744.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.375G>T
  hgvsp: ENST00000258104.3:c.375G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.378G>T
  hgvsp: ENST00000410041.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.375G>T
  hgvsp: ENST00000409762.1:c.375G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.378G>T
  hgvsp: ENST00000409651.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.375G>T
  hgvsp: ENST00000409582.3:c.375G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.378G>T
  hgvsp: ENST00000410020.3:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.378G>T
  hgvsp: ENST00000409366.1:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.375G>T
  hgvsp: ENST00000429174.2:c.375G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.378G>T
  hgvsp: ENST00000394120.2:c.378G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.375G>T
  hgvsp: ENST00000413539.2:c.375G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro126Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-71738977-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738977
    reference: chr 2
allele count: 206
allele frequency: 9.836691815490402e-3
allele num: 20942
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.383G>A
  hgvsp: ENSP00000258104.3:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.386G>A
  hgvsp: ENSP00000386881.3:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.383G>A
  hgvsp: ENSP00000398305.2:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.386G>A
  hgvsp: ENSP00000386683.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.383G>A
  hgvsp: ENSP00000387137.1:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.383G>A
  hgvsp: ENSP00000407046.2:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.386G>A
  hgvsp: ENSP00000386512.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.386G>A
  hgvsp: ENSP00000386285.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.383G>A
  hgvsp: ENSP00000386547.3:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.386G>A
  hgvsp: ENSP00000377678.2:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.386G>A
  hgvsp: ENSP00000386617.1:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 19576
  bin: 2.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Gly129Glu
num of homozygotes: 4
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-71738986-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738986
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738986
    reference: chr 2
allele count: 4
allele frequency: 1.908214864993798e-4
allele num: 20962
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.392C>G
  hgvsp: ENSP00000386547.3:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.392C>G
  hgvsp: ENSP00000258104.3:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.395C>G
  hgvsp: ENSP00000386617.1:p.Pro132Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.392C>G
  hgvsp: ENSP00000387137.1:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.395C>G
  hgvsp: ENSP00000386512.1:p.Pro132Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.392C>G
  hgvsp: ENSP00000407046.2:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.395C>G
  hgvsp: ENSP00000377678.2:p.Pro132Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.395C>G
  hgvsp: ENSP00000386881.3:p.Pro132Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.392C>G
  hgvsp: ENSP00000398305.2:p.Pro131Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.395C>G
  hgvsp: ENSP00000386683.1:p.Pro132Arg
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.395C>G
  hgvsp: ENSP00000386285.1:p.Pro132Arg
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20028
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro132Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-71738987-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738987
    reference: chr 2
allele count: 2134
allele frequency: 1.014644351464435e-1
allele num: 21032
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.396C>T
  hgvsp: ENST00000410041.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.396C>T
  hgvsp: ENST00000410020.3:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.396C>T
  hgvsp: ENST00000409651.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.396C>T
  hgvsp: ENST00000394120.2:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.396C>T
  hgvsp: ENST00000409744.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.393C>T
  hgvsp: ENST00000409762.1:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.393C>T
  hgvsp: ENST00000429174.2:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.393C>T
  hgvsp: ENST00000258104.3:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.396C>T
  hgvsp: ENST00000409366.1:c.396C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.393C>T
  hgvsp: ENST00000409582.3:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.393C>T
  hgvsp: ENST00000413539.2:c.393C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 7.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 6.25e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 2.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 18196
  bin: 2.5e0
  variant carriers: 448
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 5.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
hgvs: p.Pro132Pro
num of homozygotes: 149
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-71738995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71738995
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71738995
    reference: chr 2
allele count: 1
allele frequency: 4.771447657219201e-5
allele num: 20958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.401C>T
  hgvsp: ENSP00000407046.2:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.404C>T
  hgvsp: ENSP00000386512.1:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.401C>T
  hgvsp: ENSP00000398305.2:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.401C>T
  hgvsp: ENSP00000258104.3:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.404C>T
  hgvsp: ENSP00000386285.1:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.404C>T
  hgvsp: ENSP00000386881.3:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.404C>T
  hgvsp: ENSP00000386683.1:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.401C>T
  hgvsp: ENSP00000387137.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.404C>T
  hgvsp: ENSP00000377678.2:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.404C>T
  hgvsp: ENSP00000386617.1:p.Pro135Leu
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.401C>T
  hgvsp: ENSP00000386547.3:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro135Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-71739000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739000
    reference: chr 2
allele count: 7
allele frequency: 3.337147215865751e-4
allele num: 20976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.409C>T
  hgvsp: ENSP00000386617.1:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.406C>T
  hgvsp: ENSP00000407046.2:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.406C>T
  hgvsp: ENSP00000398305.2:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.409C>T
  hgvsp: ENSP00000386512.1:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.406C>T
  hgvsp: ENSP00000258104.3:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.406C>T
  hgvsp: ENSP00000387137.1:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.406C>T
  hgvsp: ENSP00000386547.3:p.Pro136Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.409C>T
  hgvsp: ENSP00000386285.1:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.409C>T
  hgvsp: ENSP00000386881.3:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.409C>T
  hgvsp: ENSP00000386683.1:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.409C>T
  hgvsp: ENSP00000377678.2:p.Pro137Ser
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro137Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-71739004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739004
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.413C>T
  hgvsp: ENSP00000386617.1:p.Thr138Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.410C>T
  hgvsp: ENSP00000386547.3:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.413C>T
  hgvsp: ENSP00000386285.1:p.Thr138Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.410C>T
  hgvsp: ENSP00000407046.2:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.413C>T
  hgvsp: ENSP00000377678.2:p.Thr138Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.410C>T
  hgvsp: ENSP00000258104.3:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.410C>T
  hgvsp: ENSP00000398305.2:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.413C>T
  hgvsp: ENSP00000386881.3:p.Thr138Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.413C>T
  hgvsp: ENSP00000386512.1:p.Thr138Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.413C>T
  hgvsp: ENSP00000386683.1:p.Thr138Ile
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.410C>T
  hgvsp: ENSP00000387137.1:p.Thr137Ile
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19855
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr138Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-71739019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739019
    reference: chr 2
allele count: 1
allele frequency: 4.776917932549919e-5
allele num: 20934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.428C>T
  hgvsp: ENSP00000386683.1:p.Ser143Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.428C>T
  hgvsp: ENSP00000386881.3:p.Ser143Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.425C>T
  hgvsp: ENSP00000407046.2:p.Ser142Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.425C>T
  hgvsp: ENSP00000386547.3:p.Ser142Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.428C>T
  hgvsp: ENSP00000386617.1:p.Ser143Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.425C>T
  hgvsp: ENSP00000258104.3:p.Ser142Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.428C>T
  hgvsp: ENSP00000377678.2:p.Ser143Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.425C>T
  hgvsp: ENSP00000398305.2:p.Ser142Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.428C>T
  hgvsp: ENSP00000386512.1:p.Ser143Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.428C>T
  hgvsp: ENSP00000386285.1:p.Ser143Phe
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.425C>T
  hgvsp: ENSP00000387137.1:p.Ser142Phe
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser143Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

2-71739020-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739020
    reference: chr 2
allele count: 17
allele frequency: 8.125418220055444e-4
allele num: 20922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.429C>T
  hgvsp: ENST00000409744.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.429C>T
  hgvsp: ENST00000409366.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.429C>T
  hgvsp: ENST00000394120.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.426C>T
  hgvsp: ENST00000429174.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.426C>T
  hgvsp: ENST00000409762.1:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.426C>T
  hgvsp: ENST00000258104.3:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.429C>T
  hgvsp: ENST00000410020.3:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.429C>T
  hgvsp: ENST00000409651.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.426C>T
  hgvsp: ENST00000413539.2:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.426C>T
  hgvsp: ENST00000409582.3:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.429C>T
  hgvsp: ENST00000410041.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser143Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-71739022-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739022
    reference: chr 2
allele count: 4
allele frequency: 1.911680367042631e-4
allele num: 20924
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.431C>A
  hgvsp: ENSP00000386617.1:p.Pro144Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.428C>A
  hgvsp: ENSP00000387137.1:p.Pro143Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.428C>A
  hgvsp: ENSP00000398305.2:p.Pro143Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.431C>A
  hgvsp: ENSP00000386285.1:p.Pro144Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.431C>A
  hgvsp: ENSP00000386683.1:p.Pro144Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.428C>A
  hgvsp: ENSP00000258104.3:p.Pro143Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.431C>A
  hgvsp: ENSP00000386881.3:p.Pro144Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.428C>A
  hgvsp: ENSP00000386547.3:p.Pro143Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.428C>A
  hgvsp: ENSP00000407046.2:p.Pro143Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.431C>A
  hgvsp: ENSP00000377678.2:p.Pro144Gln
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.431C>A
  hgvsp: ENSP00000386512.1:p.Pro144Gln
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17206
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro144Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-71739023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739023
    reference: chr 2
allele count: 22
allele frequency: 1.051625239005736e-3
allele num: 20920
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.429G>A
  hgvsp: ENST00000258104.3:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.429G>A
  hgvsp: ENST00000409582.3:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.432G>A
  hgvsp: ENST00000409744.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.432G>A
  hgvsp: ENST00000410041.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.432G>A
  hgvsp: ENST00000409366.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.432G>A
  hgvsp: ENST00000410020.3:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.432G>A
  hgvsp: ENST00000409651.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.429G>A
  hgvsp: ENST00000413539.2:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.432G>A
  hgvsp: ENST00000394120.2:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.429G>A
  hgvsp: ENST00000409762.1:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.429G>A
  hgvsp: ENST00000429174.2:c.429G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 16397
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Pro144Pro
num of homozygotes: 1
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-71739023-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739023
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 20920
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.432G>T
  hgvsp: ENST00000409651.1:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.429G>T
  hgvsp: ENST00000258104.3:c.429G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.432G>T
  hgvsp: ENST00000394120.2:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.429G>T
  hgvsp: ENST00000409762.1:c.429G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.432G>T
  hgvsp: ENST00000409744.1:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.432G>T
  hgvsp: ENST00000410041.1:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.429G>T
  hgvsp: ENST00000429174.2:c.429G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.429G>T
  hgvsp: ENST00000413539.2:c.429G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.432G>T
  hgvsp: ENST00000410020.3:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.429G>T
  hgvsp: ENST00000409582.3:c.429G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.432G>T
  hgvsp: ENST00000409366.1:c.432G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 16397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro144Pro
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-71739049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739049
    reference: chr 2
allele count: 1
allele frequency: 4.822996045143243e-5
allele num: 20734
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.458C>T
  hgvsp: ENSP00000386881.3:p.Ala153Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.458C>T
  hgvsp: ENSP00000377678.2:p.Ala153Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.455C>T
  hgvsp: ENSP00000258104.3:p.Ala152Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.455C>T
  hgvsp: ENSP00000387137.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.455C>T
  hgvsp: ENSP00000398305.2:p.Ala152Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.455C>T
  hgvsp: ENSP00000386547.3:p.Ala152Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.458C>T
  hgvsp: ENSP00000386617.1:p.Ala153Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.458C>T
  hgvsp: ENSP00000386683.1:p.Ala153Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.458C>T
  hgvsp: ENSP00000386285.1:p.Ala153Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.455C>T
  hgvsp: ENSP00000407046.2:p.Ala152Val
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.458C>T
  hgvsp: ENSP00000386512.1:p.Ala153Val
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala153Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

2-71739053-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739053
    reference: chr 2
allele count: 661
allele frequency: 3.613996719518862e-2
allele num: 18290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.460+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.457+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.460+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.457+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.460+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.457+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.460+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.460+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.460+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.457+2T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.457+2T>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: splice donor
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 2.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 5.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.75e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 9.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 32
hgvs: c.460+2T>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-71739057-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739057
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739057
    reference: chr 2
allele count: 4
allele frequency: 1.973943939992104e-4
allele num: 20264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.460+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.460+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.457+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.460+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.457+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.460+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.460+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.457+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.457+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.460+6T>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.457+6T>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: c.460+6T>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-71739068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739068
    reference: chr 2
allele count: 3
allele frequency: 1.478560867422376e-4
allele num: 20290
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.457+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.460+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.457+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.457+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.457+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.457+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.460+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.460+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.460+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.460+17G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.460+17G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-71739068-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739068
    reference: chr 2
allele count: 375
allele frequency: 1.848201084277969e-2
allele num: 20290
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.457+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.460+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.457+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.457+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.460+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.460+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.457+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.460+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.457+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.460+17G>C
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.460+17G>C
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.5e0
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 9.75e1
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.5e0
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
num of homozygotes: 11
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

2-71739093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71739093
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71739093
    reference: chr 2
allele count: 2
allele frequency: 9.992006394884092e-5
allele num: 20016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.460+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.457+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.457+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.457+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.457+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.460+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.460+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.460+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.460+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.460+42G>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.457+42G>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-71740337-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71740337
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71740337
    reference: chr 2
allele count: 16
allele frequency: 8.702273468943762e-4
allele num: 18386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.461-33C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.461-33C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.461-33C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.458-509C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.458-33C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.461-509C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.458-33C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.461-509C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.461-509C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.458-33C>A
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.458-509C>A
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-71740339-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71740339
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 71740339
    reference: chr 2
allele count: 23
allele frequency: 1.252859788648001e-3
allele num: 18358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000258104
  ensembl transcript: ENST00000258104
  gene symbol: DYSF
  hgvsc: ENST00000258104.3:c.458-507C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386683
  ensembl transcript: ENST00000409651
  gene symbol: DYSF
  hgvsc: ENST00000409651.1:c.461-31C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000377678
  ensembl transcript: ENST00000394120
  gene symbol: DYSF
  hgvsc: ENST00000394120.2:c.461-507C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386881
  ensembl transcript: ENST00000410020
  gene symbol: DYSF
  hgvsc: ENST00000410020.3:c.461-31C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386547
  ensembl transcript: ENST00000409582
  gene symbol: DYSF
  hgvsc: ENST00000409582.3:c.458-31C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386512
  ensembl transcript: ENST00000409366
  gene symbol: DYSF
  hgvsc: ENST00000409366.1:c.461-507C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000407046
  ensembl transcript: ENST00000413539
  gene symbol: DYSF
  hgvsc: ENST00000413539.2:c.458-31C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386285
  ensembl transcript: ENST00000409744
  gene symbol: DYSF
  hgvsc: ENST00000409744.1:c.461-507C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000386617
  ensembl transcript: ENST00000410041
  gene symbol: DYSF
  hgvsc: ENST00000410041.1:c.461-31C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000387137
  ensembl transcript: ENST00000409762
  gene symbol: DYSF
  hgvsc: ENST00000409762.1:c.458-31C>G
  variant of: http://identifiers.org/hgnc/3097
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000135636
  ensembl protein: ENSP00000398305
  ensembl transcript: ENST00000429174
  gene symbol: DYSF
  hgvsc: ENST00000429174.2:c.458-507C>G
  variant of: http://identifiers.org/hgnc/3097
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11199
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26628
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 46
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 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: 10370
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.099976857208979e-4
allele num: 8642
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

FS
type: SiteQuality
SIO_000300: 3.457e0

DP
type: SiteQuality
SIO_000300: 2.707999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.208e1

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeDepth
all individuals: 983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4305
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3905
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26622
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5384
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502476361999099e-5
allele num: 66630
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.43e0

DP
type: SiteQuality
SIO_000300: 2.708243e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.304e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

GenotypeDepth
all individuals: 9273
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5385
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2287
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4203
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3906
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.712e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.188e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.177e0

MQRankSum
type: SiteQuality
SIO_000300: -6.19e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 2.707907e6

FS
type: SiteQuality
SIO_000300: 1.124e0

QD
type: SiteQuality
SIO_000300: 6.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeDepth
all individuals: 11068
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 11292
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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MQ
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BaseQRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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African
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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African
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East Asian
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BaseQRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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num of homozygotes: 0

African
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East Asian
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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Other
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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Latino
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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QD
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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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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
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FS
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SIO_000300: 3.215e0

BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 2.708547e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

ReadPosRankSum
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SIO_000300: 6.44e-1

DP
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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QD
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MQ
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.549e0

GenotypeDepth
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variant carriers: 28

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 31

Other
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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: 4.198404606249625e-4
allele num: 66692
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

East 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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South Asian
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num of homozygotes: 0

MQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.967e1

DP
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SIO_000300: 2.711109e6

BaseQRankSum
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SIO_000300: 4.27e0

QD
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SIO_000300: 1.278e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

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

MQRankSum
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SIO_000300: 6.4e-1

DP
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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SIO_000300: 7.87e-1

QD
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SIO_000300: 1.248e1

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Finnish)
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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

South Asian
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VQSLOD
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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QD
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FS
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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

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

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

East Asian
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Other
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African
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allele frequency: 2.886280546469117e-4
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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

Latino
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allele num: 11576
num of homozygotes: 0

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

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

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

African
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South Asian
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East Asian
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Latino
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allele num: 11576
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
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African
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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: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.389210465385506e-3
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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SIO_000300: 1.242e1

MQ
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SIO_000300: 5.96e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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 frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

South Asian
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allele frequency: 4.845548152634767e-4
allele num: 16510
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FS
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.71e-1

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

Other
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num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66640
num of homozygotes: 0

East Asian
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FS
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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Latino
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South Asian
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Other
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 8.54e-1

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

FS
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SIO_000300: 2.136e0

MQRankSum
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SIO_000300: -1.413e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.299e1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
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FS
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MQ
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ClippingRankSum
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ReadPosRankSum
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SIO_000300: -9.89e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -3.295e-1

InbreedingCoeff
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 8.79e-1

DP
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SIO_000300: 2.702061e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
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
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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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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East Asian
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allele count: 0
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InbreedingCoeff
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MQRankSum
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SIO_000300: -4.64e-1

BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 3.022e0

DP
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SIO_000300: 2.700798e6

QD
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SIO_000300: 1.202e1

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

African
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allele frequency: 6.738544474393531e-4
allele num: 10388
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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BaseQRankSum
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SIO_000300: -2.001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: -6.43e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

East Asian
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Other
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African
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allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 4.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

Latino
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allele num: 11564
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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Other
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DP
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VQSLOD
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BaseQRankSum
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QD
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66546
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East Asian
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South Asian
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Latino
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Other
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VQSLOD
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MQ
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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Other
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European (Finnish)
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MQRankSum
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BaseQRankSum
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FS
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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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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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QD
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 1.3953e1

ReadPosRankSum
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SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 3

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

East 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 count: 3
allele frequency: 4.515760002408406e-5
allele num: 66434
num of homozygotes: 0

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

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

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

QD
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQ
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SIO_000300: 5.969e1

ClippingRankSum
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SIO_000300: -9.27e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11510
num of homozygotes: 0

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

African
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allele count: 4
allele frequency: 3.869969040247678e-4
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66272
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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SIO_000300: -6.08e-1

ReadPosRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.63901018922853e-4
allele num: 2748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.731e0

QD
type: SiteQuality
SIO_000300: 1.447e1

ClippingRankSum
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SIO_000300: -1.363e0

DP
type: SiteQuality
SIO_000300: 5.60618e5

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

InbreedingCoeff
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SIO_000300: -4.55e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.228e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.276348736626451e-4
allele num: 8786
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.790750568612585e-4
allele num: 7914
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.487562189054726e-3
allele num: 402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

African
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allele count: 208
allele frequency: 7.492795389048991e-2
allele num: 2776
num of homozygotes: 9

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.23e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.703e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -8.39e-1

MQ
type: SiteQuality
SIO_000300: 5.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 5.62485e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.13869278068777e-4
allele num: 8782
num of homozygotes: 0

South Asian
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Other
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African
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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
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Latino
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allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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allele num: 8786
num of homozygotes: 0

European (Finnish)
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South Asian
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Other
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African
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: -4.52e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

African
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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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Latino
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Other
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European (Non-Finnish)
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ClippingRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 73

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.10204081632653e-3
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 76
allele frequency: 2.727925340990668e-2
allele num: 2786
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.66466e5

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

FS
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.48e1

GenotypeQuality
all individuals: 5646
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 287
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.47e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.233e0

MQRankSum
type: SiteQuality
SIO_000300: -2.152e0

FS
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.499e1

DP
type: SiteQuality
SIO_000300: 5.65747e5

GenotypeDepth
all individuals: 697
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6462
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

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

GenotypeQuality
all individuals: 609
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variant carriers: 0

GenotypeQuality
all individuals: 6398
bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 2.153625269203159e-3
allele num: 2786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.06e-1

FS
type: SiteQuality
SIO_000300: 3.697e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.57e-2

DP
type: SiteQuality
SIO_000300: 5.6777e5

MQ
type: SiteQuality
SIO_000300: 5.696e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

QD
type: SiteQuality
SIO_000300: 1.358e1

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 1607
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1840
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GenotypeQuality
all individuals: 6835
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 256
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variant carriers: 0

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 2.25e1
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GenotypeQuality
all individuals: 6396
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8810
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.65e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.458e0

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 5.6848e5

GenotypeDepth
all individuals: 535
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11296
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 1636
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variant carriers: 0

GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 615
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GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 363
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GenotypeQuality
all individuals: 257
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
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GenotypeQuality
all individuals: 295
bin: 7.25e1
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 379
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6397
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.568879371877231e-4
allele num: 2802
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.038e0

DP
type: SiteQuality
SIO_000300: 5.78762e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.44e-2

FS
type: SiteQuality
SIO_000300: 4.846e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -6.68e-2

QD
type: SiteQuality
SIO_000300: 1.313e1

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6395
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.209e0

FS
type: SiteQuality
SIO_000300: 4.284e0

VQSLOD
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SIO_000300: -1.597e0

DP
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SIO_000300: 5.89951e5

InbreedingCoeff
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SIO_000300: -6.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.417e0

ReadPosRankSum
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SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.163e1

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 1675
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.126887536623845e-4
allele num: 8874
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -6.419999999999999e-2

DP
type: SiteQuality
SIO_000300: 5.92986e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 221
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 384
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 6399
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.128668171557562e-4
allele num: 8860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.16e-2

QD
type: SiteQuality
SIO_000300: 1.14e1

VQSLOD
type: SiteQuality
SIO_000300: -3.632e-1

BaseQRankSum
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SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

DP
type: SiteQuality
SIO_000300: 5.92883e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.386004514672686e-4
allele num: 8860
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.632e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.14e-1

FS
type: SiteQuality
SIO_000300: 4.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

QD
type: SiteQuality
SIO_000300: 1.14e1

InbreedingCoeff
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SIO_000300: 5.16e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 5.92883e5

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 131

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 201

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 49
bin: 2.75e1
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GenotypeQuality
all individuals: 359
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 1.530612244897959e-2
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.069900142653352e-3
allele num: 2804
num of homozygotes: 0

South Asian
type: Population
allele count: 36
allele frequency: 4.548900682335102e-3
allele num: 7914
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 4.878048780487805e-3
allele num: 410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 162
allele frequency: 1.825969341749324e-2
allele num: 8872
num of homozygotes: 3

QD
type: SiteQuality
SIO_000300: 1.372e1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

BaseQRankSum
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SIO_000300: -2.71e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.61e-2

DP
type: SiteQuality
SIO_000300: 6.06645e5

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeDepth
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18775
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variant carriers: 1

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1703
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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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: 290
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GenotypeQuality
all individuals: 259
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GenotypeQuality
all individuals: 6379
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variant carriers: 4

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.504504504504505e-4
allele num: 8880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 6.01628e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.270000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -1.447e0

MQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

QD
type: SiteQuality
SIO_000300: 1.278e1

FS
type: SiteQuality
SIO_000300: 2.524e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeDepth
all individuals: 1433
bin: 7.5e0
variant carriers: 357

GenotypeDepth
all individuals: 611
bin: 4.25e1
variant carriers: 83

GenotypeDepth
all individuals: 1196
bin: 9.75e1
variant carriers: 787

GenotypeDepth
all individuals: 643
bin: 6.75e1
variant carriers: 100

GenotypeQuality
all individuals: 219
bin: 1.25e1
variant carriers: 104

GenotypeQuality
all individuals: 203
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 23
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variant carriers: 10

GenotypeQuality
all individuals: 658
bin: 2.25e1
variant carriers: 47

GenotypeQuality
all individuals: 2495
bin: 2.5e0
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GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 61

GenotypeQuality
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bin: 7.75e1
variant carriers: 15

GenotypeQuality
all individuals: 107
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variant carriers: 66

GenotypeQuality
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variant carriers: 83

GenotypeQuality
all individuals: 30
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variant carriers: 10

GenotypeQuality
all individuals: 17
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variant carriers: 5

GenotypeQuality
all individuals: 15782
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variant carriers: 258

GenotypeQuality
all individuals: 270
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variant carriers: 26

GenotypeQuality
all individuals: 560
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variant carriers: 33

GenotypeQuality
all individuals: 42
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variant carriers: 26

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 1531
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variant carriers: 23

GenotypeQuality
all individuals: 289
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variant carriers: 10

GenotypeQuality
all individuals: 7087
bin: 9.75e1
variant carriers: 1996

South Asian
type: Population
allele count: 470
allele frequency: 5.937342091965639e-2
allele num: 7916
num of homozygotes: 19

European (Non-Finnish)
type: Population
allele count: 1001
allele frequency: 1.122952658739062e-1
allele num: 8914
num of homozygotes: 62

European (Finnish)
type: Population
allele count: 40
allele frequency: 2.631578947368421e-1
allele num: 152
num of homozygotes: 4

Latino
type: Population
allele count: 39
allele frequency: 9.558823529411764e-2
allele num: 408
num of homozygotes: 1

Other
type: Population
allele count: 23
allele frequency: 1.161616161616162e-1
allele num: 198
num of homozygotes: 0

African
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allele count: 556
allele frequency: 1.97864768683274e-1
allele num: 2810
num of homozygotes: 63

East Asian
type: Population
allele count: 5
allele frequency: 7.886435331230283e-3
allele num: 634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

BaseQRankSum
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SIO_000300: 0.0e0

DP
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SIO_000300: 6.73421e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.578e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.44e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 409
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
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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: 1895
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 258
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GenotypeQuality
all individuals: 210
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.125112511251125e-4
allele num: 8888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.312e0

MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.370000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 6.062e0

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 6.09523e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6079
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 410
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 8.845084660096032e-4
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

DP
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InbreedingCoeff
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SIO_000300: -6.469999999999999e-2

MQRankSum
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SIO_000300: 5.82e-1

BaseQRankSum
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VQSLOD
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SIO_000300: -9.25e-2

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 878
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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: 1.75e1
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GenotypeQuality
all individuals: 168
bin: 1.25e1
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 17
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8890
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.122e1

DP
type: SiteQuality
SIO_000300: 6.07943e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.817e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 6.727e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.469999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 256
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.263583522870862e-4
allele num: 7914
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.33e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
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SIO_000300: -6.15e-1

BaseQRankSum
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SIO_000300: -2.767e0

QD
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SIO_000300: 1.279e1

ReadPosRankSum
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SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.208e0

DP
type: SiteQuality
SIO_000300: 6.00731e5

VQSLOD
type: SiteQuality
SIO_000300: -1.638e0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 6084
bin: 9.75e1
variant carriers: 17

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8850
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
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allele frequency: 5.357142857142857e-3
allele num: 2800
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.527167045741723e-4
allele num: 7914
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.446e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ReadPosRankSum
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SIO_000300: 8.86e-1

FS
type: SiteQuality
SIO_000300: 1.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 6.00195e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.270000000000001e-2

GenotypeDepth
all individuals: 748
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variant carriers: 0

GenotypeDepth
all individuals: 663
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variant carriers: 2

GenotypeDepth
all individuals: 519
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 255
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6078
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variant carriers: 4

GenotypeQuality
all individuals: 104
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 1.429592566118656e-3
allele num: 2798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.5e1

FS
type: SiteQuality
SIO_000300: 6.305e0

VQSLOD
type: SiteQuality
SIO_000300: -5.24e-1

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 6.002e5

MQ
type: SiteQuality
SIO_000300: 5.899e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeDepth
all individuals: 649
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 726
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 661
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variant carriers: 0

GenotypeQuality
all individuals: 6077
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 355
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 2.779883750315896e-3
allele num: 7914
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.2e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

InbreedingCoeff
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SIO_000300: 4.92e-2

DP
type: SiteQuality
SIO_000300: 5.99317e5

FS
type: SiteQuality
SIO_000300: 1.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 399
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GenotypeQuality
all individuals: 6077
bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

InbreedingCoeff
type: SiteQuality
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QD
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SIO_000300: 1.2e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 5.99317e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
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SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.145737855178735e-4
allele num: 8728
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 398
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 626
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

FS
type: SiteQuality
SIO_000300: 1.3171e1

ReadPosRankSum
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.19e-2

QD
type: SiteQuality
SIO_000300: 2.892e1

DP
type: SiteQuality
SIO_000300: 5.80202e5

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 16

GenotypeQuality
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bin: 3.75e1
variant carriers: 40

GenotypeQuality
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GenotypeQuality
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variant carriers: 166

GenotypeQuality
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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: 39

GenotypeQuality
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variant carriers: 20

GenotypeQuality
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bin: 2.25e1
variant carriers: 49

GenotypeQuality
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bin: 1.25e1
variant carriers: 36

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 17

GenotypeQuality
all individuals: 220
bin: 7.25e1
variant carriers: 30

GenotypeQuality
all individuals: 235
bin: 7.75e1
variant carriers: 28

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 35

GenotypeQuality
all individuals: 141
bin: 8.75e1
variant carriers: 25

European (Finnish)
type: Population
allele count: 4
allele frequency: 9.523809523809523e-2
allele num: 42
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 412
allele frequency: 5.66400879846027e-2
allele num: 7274
num of homozygotes: 0

African
type: Population
allele count: 123
allele frequency: 5.595996360327571e-2
allele num: 2198
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 5.172413793103448e-2
allele num: 174
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 3.468208092485549e-2
allele num: 346
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 5.253623188405797e-2
allele num: 552
num of homozygotes: 0

South Asian
type: Population
allele count: 72
allele frequency: 9.345794392523364e-3
allele num: 7704
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.906e2

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 3.58486e2

QD
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.834e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.992e0

DP
type: SiteQuality
SIO_000300: 6.0874e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e0

GenotypeDepth
all individuals: 588
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6783
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5594
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.372479240806643e-4
allele num: 8430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.527805864509606e-4
allele num: 7912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.45892e5

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -7.320999999999999e1

FS
type: SiteQuality
SIO_000300: 1.25996e2

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.44e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.75e-1

QD
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.606e0

GenotypeDepth
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4799
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1835
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5778
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 714
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.793626707132018e-4
allele num: 7908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.23e-2

DP
type: SiteQuality
SIO_000300: 5.36519e5

QD
type: SiteQuality
SIO_000300: 1.29e1

FS
type: SiteQuality
SIO_000300: 2.829e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeDepth
all individuals: 550
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 95
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 230
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 2.75e1
variant carriers: 7

GenotypeQuality
all individuals: 4799
bin: 7.5e0
variant carriers: 19

GenotypeQuality
all individuals: 1835
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 301
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 109
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 260
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 714
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1354
bin: 6.25e1
variant carriers: 6

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 507
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5778
bin: 9.75e1
variant carriers: 366

GenotypeQuality
all individuals: 287
bin: 7.75e1
variant carriers: 4

Other
type: Population
allele count: 3
allele frequency: 1.530612244897959e-2
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 2.061855670103093e-2
allele num: 388
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 5.23168908819133e-3
allele num: 2676
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 6.578947368421052e-3
allele num: 608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 9.722222222222222e-2
allele num: 72
num of homozygotes: 2

South Asian
type: Population
allele count: 95
allele frequency: 1.201315123925139e-2
allele num: 7908
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 244
allele frequency: 2.89031035299692e-2
allele num: 8442
num of homozygotes: 7

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 5.36519e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.23e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 2.829e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.302e0

GenotypeQuality
all individuals: 298
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3355
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2807
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5564
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.590673575129534e-3
allele num: 386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.643e1

FS
type: SiteQuality
SIO_000300: 2.605e0

DP
type: SiteQuality
SIO_000300: 5.15635e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.59e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.86e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.514e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.66e-1

GenotypeQuality
all individuals: 423
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1069
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 169
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 16
allele frequency: 8.537886872998933e-3
allele num: 1874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

DP
type: SiteQuality
SIO_000300: 2.91943e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

GenotypeQuality
all individuals: 1292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 1.75e1
variant carriers: 0