1-6505743-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505743
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505743
    reference: chr 1
allele count: 3
allele frequency: 2.708314525593572e-5
allele num: 110770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.567T>G
  hgvsp: ENST00000418286.1:c.567T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1212T>G
  hgvsp: ENST00000377828.1:c.1212T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-2A>C
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
hgvs: n.96-2A>C
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/1-6505753-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505753
    reference: chr 1
allele count: 1
allele frequency: 8.985210343774148e-6
allele num: 111294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-12G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.577C>A
  hgvsp: ENSP00000401793.1:p.Gln193Lys
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1222C>A
  hgvsp: ENSP00000367059.1:p.Gln408Lys
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln408Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-6505753-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505754
    reference: chr 1
allele count: 1
allele frequency: 8.985210343774148e-6
allele num: 111294
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-13dupT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.578dupA
  hgvsp: ENSP00000401793.1:p.Ser194GlufsTer?
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1223dupA
  hgvsp: ENSP00000367059.1:p.Ser409GlufsTer60
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser409GlufsTer60
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-6505762-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505762
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505762
    reference: chr 1
allele count: 1
allele frequency: 8.990218642117376e-6
allele num: 111232
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1231A>C
  hgvsp: ENSP00000367059.1:p.Met411Leu
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.586A>C
  hgvsp: ENSP00000401793.1:p.Met196Leu
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-21T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1120
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met411Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

1-6505763-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505763
    reference: chr 1
allele count: 3
allele frequency: 2.700707585387371e-5
allele num: 111082
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-22A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.587T>C
  hgvsp: ENSP00000401793.1:p.Met196Thr
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1232T>C
  hgvsp: ENSP00000367059.1:p.Met411Thr
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met411Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

1-6505778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505778
    reference: chr 1
allele count: 1
allele frequency: 9.15616759449165e-6
allele num: 109216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1247C>T
  hgvsp: ENSP00000367059.1:p.Pro416Leu
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.602C>T
  hgvsp: ENSP00000401793.1:p.Pro201Leu
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-37G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9657
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4079
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38002
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 580
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genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro416Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-6505779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505779
    reference: chr 1
allele count: 63
allele frequency: 5.76564044367976e-4
allele num: 109268
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1248G>A
  hgvsp: ENST00000377828.1:c.1248G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-38C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.603G>A
  hgvsp: ENST00000418286.1:c.603G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 29361
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 575
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Pro416Pro
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-6505789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505789
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505789
    reference: chr 1
allele count: 1
allele frequency: 9.325748391308402e-6
allele num: 107230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.613C>T
  hgvsp: ENST00000418286.1:c.613C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1258C>T
  hgvsp: ENST00000377828.1:c.1258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-48G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1326
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu420Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

1-6505795-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505795
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505795
    reference: chr 1
allele count: 82
allele frequency: 7.76897714783795e-4
allele num: 105548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.619C>T
  hgvsp: ENSP00000401793.1:p.Arg207Trp
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1264C>T
  hgvsp: ENSP00000367059.1:p.Arg422Trp
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-54G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3125
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 9.25e1
  variant carriers: 2
hgvs: p.Arg422Trp
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-6505796-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505796
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505796
    reference: chr 1
allele count: 314
allele frequency: 2.988142593403247e-3
allele num: 105082
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-55C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1265G>A
  hgvsp: ENSP00000367059.1:p.Arg422Gln
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.620G>A
  hgvsp: ENSP00000401793.1:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 341
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15896
  bin: 1.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 7.5e0
  variant carriers: 18
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 58
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 36
genotype depth: GenotypeDepth
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  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 287
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 96
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 244
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.25e1
  variant carriers: 3
hgvs: p.Arg422Gln
num of homozygotes: 2
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

1-6505799-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505799
    reference: chr 1
allele count: 1
allele frequency: 9.673799481484348e-6
allele num: 103372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1268G>A
  hgvsp: ENSP00000367059.1:p.Gly423Asp
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-58C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.623G>A
  hgvsp: ENSP00000401793.1:p.Gly208Asp
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18556
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13696
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
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genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly423Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-6505802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505802
    reference: chr 1
allele count: 1
allele frequency: 9.770586626021026e-6
allele num: 102348
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1271C>T
  hgvsp: ENSP00000367059.1:p.Thr424Met
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-61G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.626C>T
  hgvsp: ENSP00000401793.1:p.Thr209Met
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6725
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genotype depth: GenotypeDepth
  all individuals: 1400
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr424Met
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

1-6505803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505803
    reference: chr 1
allele count: 4
allele frequency: 3.943062182090611e-5
allele num: 101444
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1272G>A
  hgvsp: ENST00000377828.1:c.1272G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.627G>A
  hgvsp: ENST00000418286.1:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-62C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr424Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-6505803-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505803
    reference: chr 1
allele count: 13
allele frequency: 1.281495209179449e-4
allele num: 101444
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-62C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1272G>C
  hgvsp: ENST00000377828.1:c.1272G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.627G>C
  hgvsp: ENST00000418286.1:c.627G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20198
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7913
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr424Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-6505805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505805
    reference: chr 1
allele count: 16
allele frequency: 1.586797841954935e-4
allele num: 100832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.629T>C
  hgvsp: ENSP00000401793.1:p.Ile210Thr
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1274T>C
  hgvsp: ENSP00000367059.1:p.Ile425Thr
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-64A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6936
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9022
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20866
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4601
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24119
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
  all individuals: 14068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
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genotype quality: GenotypeQuality
  all individuals: 247
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile425Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-6505806-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505806
    reference: chr 1
allele count: 1
allele frequency: 9.989411224102451e-6
allele num: 100106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.630T>G
  hgvsp: ENSP00000401793.1:p.Ile210Met
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-65A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1275T>G
  hgvsp: ENSP00000367059.1:p.Ile425Met
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21124
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2450
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genotype quality: GenotypeQuality
  all individuals: 12893
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 434
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 137
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genotype quality: GenotypeQuality
  all individuals: 821
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genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 281
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genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5115
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile425Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-6505813-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505813
    reference: chr 1
allele count: 1
allele frequency: 1.175889560452482e-5
allele num: 85042
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1282C>A
  hgvsp: ENSP00000367059.1:p.Pro428Thr
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.637C>A
  hgvsp: ENSP00000401793.1:p.Pro213Thr
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-72G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19583
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro428Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-6505816-ACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505753
    reference: chr 1
allele count: 28
allele frequency: 3.315021784428869e-4
allele num: 84464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsp: ENSP00000367059.1:p.Pro433_Pro453del
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22237
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Pro433_Pro453del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: ACACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

1-6505817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505817
    reference: chr 1
allele count: 451
allele frequency: 9.334381985263681e-3
allele num: 48316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-76G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1286C>T
  hgvsp: ENSP00000367059.1:p.Thr429Ile
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000401793
  ensembl transcript: ENST00000418286
  gene symbol: ESPN
  hgvsc: ENST00000418286.1:c.641C>T
  hgvsp: ENST00000418286.1:c.641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 180
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20323
  bin: 7.5e0
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 7.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 181
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  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 14606
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 547
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genotype quality: GenotypeQuality
  all individuals: 715
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 9.75e1
  variant carriers: 427
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2746
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genotype quality: GenotypeQuality
  all individuals: 142
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 410
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genotype quality: GenotypeQuality
  all individuals: 2783
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genotype quality: GenotypeQuality
  all individuals: 211
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  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 329
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  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 7
hgvs: p.Thr429Ile
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-6505819-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505819
    reference: chr 1
allele count: 1
allele frequency: 2.094679514034353e-5
allele num: 47740
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1288C>A
  hgvsp: ENSP00000367059.1:p.Pro430Thr
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-78G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8633
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12891
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 398
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 0
hgvs: p.Pro430Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3848
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

1-6505821-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505821
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505821
    reference: chr 1
allele count: 1
allele frequency: 2.0919626793858e-5
allele num: 47802
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-80G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1290C>T
  hgvsp: ENST00000377828.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro430Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3510
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-6505823-CACCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505819
    reference: chr 1
allele count: 2
allele frequency: 4.207514621113308e-5
allele num: 47534
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1293_1296delACCA
  hgvsp: ENSP00000367059.1:p.Pro433HisfsTer29
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-86_96-83delTGGT
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12704
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14940
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26705
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro433HisfsTer29
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1328
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: CACCA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-6505824-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505824
    reference: chr 1
allele count: 10
allele frequency: 2.218278615794144e-4
allele num: 45080
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-83T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1293A>C
  hgvsp: ENST00000377828.1:c.1293A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 21108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5483
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro431Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1276
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-6505827-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505827
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505827
    reference: chr 1
allele count: 11
allele frequency: 3.539481305103289e-4
allele num: 31078
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1296A>C
  hgvsp: ENST00000377828.1:c.1296A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-86T>G
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28841
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8796
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro432Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8684
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-6505828-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505828
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505828
    reference: chr 1
allele count: 2
allele frequency: 5.859947260474656e-5
allele num: 34130
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-87G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1297C>A
  hgvsp: ENSP00000367059.1:p.Pro433Thr
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23738
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10047
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29899
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Pro433Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 724
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/1-6505830-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505830
    reference: chr 1
allele count: 1
allele frequency: 3.552650277106722e-5
allele num: 28148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-89G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1299C>A
  hgvsp: ENST00000377828.1:c.1299C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24050
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Pro433Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 250
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

1-6505830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505830
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505830
    reference: chr 1
allele count: 1
allele frequency: 3.552650277106722e-5
allele num: 28148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-89G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1299C>T
  hgvsp: ENST00000377828.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro433Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12632
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-6505832-CACCCAGCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505823
    reference: chr 1
allele count: 2
allele frequency: 1.000500250125063e-4
allele num: 19990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsp: ENSP00000367059.1:p.Ser436_Pro438del
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
  all individuals: 26276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser436_Pro438del
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7970
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: CACCCAGCTT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-6505833-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505833
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505833
    reference: chr 1
allele count: 10
allele frequency: 6.424257998201208e-4
allele num: 15566
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-92T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1302A>C
  hgvsp: ENST00000377828.1:c.1302A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25879
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3764
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Pro434Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 96
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

1-6505836-CAGCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505836
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505831
    reference: chr 1
allele count: 3
allele frequency: 1.752131760308375e-4
allele num: 17122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1306_1310delAGCTT
  hgvsp: ENSP00000367059.1:p.Ser436ProfsTer31
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-100_96-96delAAGCT
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser436ProfsTer31
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7752
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: CAGCTT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

1-6505843-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505843
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 15208
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-102G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1312C>G
  hgvsp: ENSP00000367059.1:p.Pro438Ala
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 517
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro438Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 42
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

1-6505847-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505846
    reference: chr 1
allele count: 2
allele frequency: 1.278772378516624e-4
allele num: 15640
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-107delC
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1317delG
  hgvsp: ENSP00000367059.1:p.Pro440HisfsTer23
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
hgvs: p.Pro440HisfsTer23
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 680
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CG
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

1-6505848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505848
    reference: chr 1
allele count: 1
allele frequency: 9.934432743890324e-5
allele num: 10066
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-107C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1317G>A
  hgvsp: ENST00000377828.1:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 295
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro439Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 212
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-6505848-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505848
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505848
    reference: chr 1
allele count: 10
allele frequency: 9.934432743890324e-4
allele num: 10066
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1317G>C
  hgvsp: ENST00000377828.1:c.1317G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-107C>G
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro439Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 212
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-6505850-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505850
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505849
    reference: chr 1
allele count: 2
allele frequency: 1.344628210299852e-4
allele num: 14874
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1320delA
  hgvsp: ENSP00000367059.1:p.Pro442ArgfsTer21
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-110delT
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro442ArgfsTer21
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.669724770642202e-4
  allele num: 5450
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: CA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-6505851-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505851
    reference: chr 1
allele count: 8
allele frequency: 8.494372478233171e-4
allele num: 9418
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-110T>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1320A>C
  hgvsp: ENST00000377828.1:c.1320A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 377
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 919
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3649
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 419
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  variant carriers: 3
hgvs: p.Pro440Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5778
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-6505851-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505850
    reference: chr 1
allele count: 1
allele frequency: 1.061796559779146e-4
allele num: 9418
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-111delG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1325delC
  hgvsp: ENSP00000367059.1:p.Pro442ArgfsTer21
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro442ArgfsTer21
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: AC
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-6505851-ACCCCCGCCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505851
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505842
    reference: chr 1
allele count: 2
allele frequency: 2.123593119558293e-4
allele num: 9418
alternate allele: A
canonical: false
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3649
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5778
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 112
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 7.936507936507936e-3
  allele num: 252
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2798
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
reference allele: ACCCCCGCCC
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

1-6505856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505856
    reference: chr 1
allele count: 1
allele frequency: 6.772314777190844e-5
allele num: 14766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-115G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1325C>T
  hgvsp: ENSP00000367059.1:p.Pro442Leu
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro442Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 450
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

1-6505856-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505856
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505855
    reference: chr 1
allele count: 2
allele frequency: 1.354462955438169e-4
allele num: 14766
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1326delG
  hgvsp: ENSP00000367059.1:p.Pro444GlnfsTer19
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-116delC
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17094
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro444GlnfsTer19
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7396
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: CG
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

1-6505857-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505857
    reference: chr 1
allele count: 10
allele frequency: 1.066552901023891e-3
allele num: 9376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-116C>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1326G>C
  hgvsp: ENST00000377828.1:c.1326G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26349
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23388
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro442Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5786
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

1-6505857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505857
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505857
    reference: chr 1
allele count: 1
allele frequency: 1.066552901023891e-4
allele num: 9376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1326G>A
  hgvsp: ENST00000377828.1:c.1326G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-116C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro442Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 232
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

1-6505862-CAGGCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505857
    reference: chr 1
allele count: 7
allele frequency: 3.715498938428875e-4
allele num: 18840
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1332_1336delAGGCA
  hgvsp: ENSP00000367059.1:p.Gly445ProfsTer22
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-126_96-122delTGCCT
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23260
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22856
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19806
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21665
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 2
hgvs: p.Gly445ProfsTer22
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 238
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: CAGGCA
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

1-6505870-CAACTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505870
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505865
    reference: chr 1
allele count: 3
allele frequency: 8.760658801541876e-5
allele num: 34244
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-134_96-130delCAGTT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1340_1344delAACTG
  hgvsp: ENSP00000367059.1:p.Gln447ProfsTer20
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5960
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31876
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln447ProfsTer20
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2212
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: CAACTG
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

1-6505891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505891
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505891
    reference: chr 1
allele count: 9
allele frequency: 8.39223438578169e-5
allele num: 107242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1360G>A
  hgvsp: ENSP00000367059.1:p.Gly454Ser
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-150C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37210
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 34710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly454Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7728
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

1-6505900-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505900
    reference: chr 1
allele count: 1
allele frequency: 8.81849768073511e-6
allele num: 113398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1369G>C
  hgvsp: ENSP00000367059.1:p.Ala457Pro
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-159C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala457Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 828
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

1-6505900-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505900
    reference: chr 1
allele count: 21
allele frequency: 1.851884512954373e-4
allele num: 113398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1369G>T
  hgvsp: ENSP00000367059.1:p.Ala457Ser
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-159C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39127
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3017
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7951
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala457Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.868227674679288e-4
  allele num: 16058
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum

1-6505906-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505906
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505906
    reference: chr 1
allele count: 1
allele frequency: 8.7139894386448e-6
allele num: 114758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-165T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1375A>G
  hgvsp: ENSP00000367059.1:p.Lys459Glu
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys459Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62590
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-6505908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505908
    reference: chr 1
allele count: 1
allele frequency: 8.698223822695406e-6
allele num: 114966
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-167C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1377G>A
  hgvsp: ENST00000377828.1:c.1377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39339
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys459Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 62712
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-6505908-GCCT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505908
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505905
    reference: chr 1
allele count: 1
allele frequency: 8.698223822695406e-6
allele num: 114966
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1381_1383delCCT
  hgvsp: ENSP00000367059.1:p.Pro461del
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-170_96-168delAGG
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38045
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro461del
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.169031462060457e-5
  allele num: 16210
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: GCCT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

1-6505917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505917
    reference: chr 1
allele count: 192
allele frequency: 1.661992313285551e-3
allele num: 115524
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1386A>G
  hgvsp: ENST00000377828.1:c.1386A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-176T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10372
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39199
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38121
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 9.75e1
  variant carriers: 189
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8224
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val462Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 18
  allele frequency: 1.570406560809632e-3
  allele num: 11462
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

1-6505922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505922
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505922
    reference: chr 1
allele count: 3
allele frequency: 2.588706337153113e-5
allele num: 115888
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-181G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1391C>T
  hgvsp: ENSP00000367059.1:p.Pro464Leu
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39181
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 43
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2011
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 850
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro464Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 856
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-6505923-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505923
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505923
    reference: chr 1
allele count: 1
allele frequency: 8.626787901792646e-6
allele num: 115918
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1392A>C
  hgvsp: ENST00000377828.1:c.1392A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-182T>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro464Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8526
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-6505934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505934
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505934
    reference: chr 1
allele count: 45
allele frequency: 3.874967708602429e-4
allele num: 116130
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1403A>G
  hgvsp: ENSP00000367059.1:p.Asp468Gly
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-193T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5661
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1872
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 54
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 43
hgvs: p.Asp468Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 18
  allele frequency: 1.105651105651106e-3
  allele num: 16280
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-6505941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505941
    reference: chr 1
allele count: 2
allele frequency: 1.719187855656988e-5
allele num: 116334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1410C>T
  hgvsp: ENST00000377828.1:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-200G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr470Tyr
num of homozygotes: 1
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11502
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS

1-6505942-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505942
    reference: chr 1
allele count: 1
allele frequency: 8.594018563080097e-6
allele num: 116360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-201T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1411A>T
  hgvsp: ENSP00000367059.1:p.Met471Leu
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met471Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 868
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-6505943-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505943
    reference: chr 1
allele count: 2
allele frequency: 1.718656010999398e-5
allele num: 116370
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1412T>A
  hgvsp: ENSP00000367059.1:p.Met471Lys
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-202A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Met471Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11506
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-6505946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505946
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505946
    reference: chr 1
allele count: 1
allele frequency: 8.588704136319913e-6
allele num: 116432
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-205T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1415A>G
  hgvsp: ENSP00000367059.1:p.Gln472Arg
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gln472Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 868
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-6505949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505949
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 116438
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1418C>T
  hgvsp: ENSP00000367059.1:p.Thr473Ile
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-208G>A
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Thr473Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8532
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/1-6505957-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505957
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505957
    reference: chr 1
allele count: 5
allele frequency: 4.295089853279731e-5
allele num: 116412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1426A>C
  hgvsp: ENSP00000367059.1:p.Lys476Gln
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-216T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys476Gln
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63748
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

1-6505960-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505960
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505960
    reference: chr 1
allele count: 1
allele frequency: 8.591065292096219e-6
allele num: 116400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-219G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1429C>G
  hgvsp: ENSP00000367059.1:p.Leu477Val
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10770
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu477Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.157635467980295e-5
  allele num: 16240
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-6505963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505963
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505963
    reference: chr 1
allele count: 17
allele frequency: 1.460581483263454e-4
allele num: 116392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-222G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1432C>T
  hgvsp: ENSP00000367059.1:p.Arg478Cys
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg478Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

1-6505964-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505964
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505964
    reference: chr 1
allele count: 2
allele frequency: 1.718213058419244e-5
allele num: 116400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1433G>A
  hgvsp: ENSP00000367059.1:p.Arg478His
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-223C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1937
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg478His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-6505966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505966
    reference: chr 1
allele count: 1
allele frequency: 8.591655783902673e-6
allele num: 116392
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-225G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1435C>T
  hgvsp: ENSP00000367059.1:p.His479Tyr
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His479Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11504
  num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-6505981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505981
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505981
    reference: chr 1
allele count: 3
allele frequency: 2.578205568924029e-5
allele num: 116360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1450G>A
  hgvsp: ENSP00000367059.1:p.Ala484Thr
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-240C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala484Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.707359171504786e-5
  allele num: 63730
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

1-6505986-CAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505983
    reference: chr 1
allele count: 1
allele frequency: 8.597269507204511e-6
allele num: 116316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1459_1461delAAG
  hgvsp: ENSP00000367059.1:p.Lys487del
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-248_96-246delCTT
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2851
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys487del
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: CAAG
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

1-6505996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505996
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505996
    reference: chr 1
allele count: 2
allele frequency: 1.721259273284335e-5
allele num: 116194
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+1G>A
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-255C>T
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2084
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 185
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genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 2
hgvs: c.1464+1G>A
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8522
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

1-6505997-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505997
    reference: chr 1
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+2T>A
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-256A>T
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
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genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1464+2T>A
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 866
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

1-6505997-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505997
    reference: chr 1
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+2T>G
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-256A>C
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38643
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1464+2T>G
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8524
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-6505999-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6505999
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6505999
    reference: chr 1
allele count: 2
allele frequency: 1.721911321566939e-5
allele num: 116150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-258C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+4G>A
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 943
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.75e1
  variant carriers: 0
hgvs: c.1464+4G>A
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16158
  num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-6506003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6506003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6506003
    reference: chr 1
allele count: 1
allele frequency: 8.616529951058109e-6
allele num: 116056
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-262C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+8G>A
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2841
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1464+8G>A
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8522
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

1-6506004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6506004
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6506004
    reference: chr 1
allele count: 1
allele frequency: 8.626936747299768e-6
allele num: 115916
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-263G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+9C>T
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 864
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-6506006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6506006
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6506006
    reference: chr 1
allele count: 1
allele frequency: 8.625299729165588e-6
allele num: 115938
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-265G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+11C>T
  variant of: http://identifiers.org/hgnc/13281
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

1-6506007-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6506007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6506007
    reference: chr 1
allele count: 1
allele frequency: 8.627234453723514e-6
allele num: 115912
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+12T>C
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-266A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8524
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-6506009-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6506009
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6506008
    reference: chr 1
allele count: 347
allele frequency: 2.997374058461751e-3
allele num: 115768
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+19delC
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-269delG
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 37905
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 10556
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 9.75e1
  variant carriers: 344
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 8
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.732309051329779e-5
  allele num: 63394
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: AC
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-6506010-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6506010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6506010
    reference: chr 1
allele count: 2
allele frequency: 1.736955464461891e-5
allele num: 115144
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+15C>A
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-269G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37412
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-6506011-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6506011
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 6506011
    reference: chr 1
allele count: 347
allele frequency: 2.99820280638695e-3
allele num: 115736
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187017
  ensembl protein: ENSP00000367059
  ensembl transcript: ENST00000377828
  gene symbol: ESPN
  hgvsc: ENST00000377828.1:c.1464+16C>A
  variant of: http://identifiers.org/hgnc/13281
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000231868
  ensembl transcript: ENST00000419034
  gene symbol: RP1-202O8.2
  hgvsc: ENST00000419034.1:n.96-270G>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 10530
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 37757
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 9.75e1
  variant carriers: 344
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8057
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 8
population: African
  type: Population
  allele count: 327
  allele frequency: 3.711691259931896e-2
  allele num: 8810
  num of homozygotes: 8
population: Other
population: East Asian
reference allele: C

GenotypeQuality
all individuals: 299
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.754315093646713e-4
allele num: 10892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61052
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 2.113e0

DP
type: SiteQuality
SIO_000300: 1.426189e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 617
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.631374596234787e-5
allele num: 61298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 3.918e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

DP
type: SiteQuality
SIO_000300: 1.433202e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
all individuals: 299
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15214
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.132420091324201e-5
allele num: 10950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.433202e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 3.918e0

QD
type: SiteQuality
SIO_000300: 1.137e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632173402102239e-5
allele num: 61268
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 2.879e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.42872e6

QD
type: SiteQuality
SIO_000300: 8.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: -1.231e-1

GenotypeQuality
all individuals: 235
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.586800573888092e-4
allele num: 8364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.425702e6

VQSLOD
type: SiteQuality
SIO_000300: -9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-1

QD
type: SiteQuality
SIO_000300: 1.062e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 1.365e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.021e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

GenotypeQuality
all individuals: 946
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.206407659731172e-5
allele num: 10862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15098
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.02e1

VQSLOD
type: SiteQuality
SIO_000300: -7.259e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.382436e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 3
allele frequency: 2.761922297919352e-4
allele num: 10862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.624671916010499e-3
allele num: 762
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

African
type: Population
allele count: 52
allele frequency: 5.875706214689265e-3
allele num: 8850
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.991340837940452e-5
allele num: 60052
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.075e0

MQRankSum
type: SiteQuality
SIO_000300: -1.956e0

QD
type: SiteQuality
SIO_000300: 1.055e1

VQSLOD
type: SiteQuality
SIO_000300: -7.035e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

DP
type: SiteQuality
SIO_000300: 1.382736e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.487e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.310986964618249e-5
allele num: 10740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.088e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

QD
type: SiteQuality
SIO_000300: 9.42e0

VQSLOD
type: SiteQuality
SIO_000300: -1.481e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.31156e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

GenotypeQuality
all individuals: 18152
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.73224043715847e-3
allele num: 732
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.826455624646693e-4
allele num: 10614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5044
num of homozygotes: 0

African
type: Population
allele count: 77
allele frequency: 9.010063187456121e-3
allele num: 8546
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14724
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.027e1

VQSLOD
type: SiteQuality
SIO_000300: -3.459e-1

MQ
type: SiteQuality
SIO_000300: 5.567e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 1.245442e6

GenotypeQuality
all individuals: 1405
bin: 9.75e1
variant carriers: 300

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57576
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.697152555157458e-3
allele num: 10606
num of homozygotes: 0

African
type: Population
allele count: 295
allele frequency: 3.477953312897902e-2
allele num: 8482
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.366120218579235e-3
allele num: 732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.232231e6

GenotypeQuality
all individuals: 1108
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56604
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 704
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.883259911894274e-5
allele num: 14528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4816
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

DP
type: SiteQuality
SIO_000300: 1.172107e6

FS
type: SiteQuality
SIO_000300: 4.939e0

VQSLOD
type: SiteQuality
SIO_000300: -7.944e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.577e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.306e0

GenotypeQuality
all individuals: 239
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7844
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.784184984299172e-5
allele num: 56048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.209e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

FS
type: SiteQuality
SIO_000300: 2.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.84e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.136176e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.800698671084381e-5
allele num: 55534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 3
allele frequency: 3.850102669404518e-4
allele num: 7792
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.256e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 1.86e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.120138e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7792
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African
type: Population
allele count: 13
allele frequency: 1.590019569471624e-3
allele num: 8176
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14328
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e-1

FS
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.120138e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.461988304093567e-3
allele num: 684
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.983240223463687e-5
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num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.806451612903226e-3
allele num: 7750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
SIO_000300: 1.095185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54716
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.778994719342852e-5
allele num: 10226
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8022
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14254
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4506
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
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FS
type: SiteQuality
SIO_000300: 5.798e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.225e0

MQRankSum
type: SiteQuality
SIO_000300: -4.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.564e0

QD
type: SiteQuality
SIO_000300: 1.425e1

DP
type: SiteQuality
SIO_000300: 1.082073e6

MQ
type: SiteQuality
SIO_000300: 5.616e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 1107
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13086
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6686
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.205363443895554e-5
allele num: 45344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.208e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 2.732e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

DP
type: SiteQuality
SIO_000300: 9.49461e5

QD
type: SiteQuality
SIO_000300: 8.08e0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 3.999644476046574e-4
allele num: 45004
num of homozygotes: 0

African
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allele count: 3
allele frequency: 4.499100179964007e-4
allele num: 6668
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.503307276007216e-4
allele num: 6652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.309066843150232e-4
allele num: 9066
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.536806516059628e-4
allele num: 13014
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Other
type: Population
allele count: 1
allele frequency: 1.724137931034483e-3
allele num: 580
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DP
type: SiteQuality
SIO_000300: 9.43823e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.851e0

FS
type: SiteQuality
SIO_000300: 2.9184e1

MQRankSum
type: SiteQuality
SIO_000300: -1.966e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQ
type: SiteQuality
SIO_000300: 5.584e1

QD
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 1280
bin: 6.75e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 328
allele frequency: 1.372844466767119e-2
allele num: 23892
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 5.681818181818182e-3
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South Asian
type: Population
allele count: 39
allele frequency: 3.847671665351223e-3
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num of homozygotes: 0

Latino
type: Population
allele count: 31
allele frequency: 6.010081426909655e-3
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num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 1.692047377326565e-3
allele num: 3546
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European (Finnish)
type: Population
allele count: 45
allele frequency: 3.260869565217391e-2
allele num: 1380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.25e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 7.66447e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.153e-1

QD
type: SiteQuality
SIO_000300: 1.103e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.778e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5142
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.25930658488798e-5
allele num: 23478
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.12e-2

DP
type: SiteQuality
SIO_000300: 7.5701e5

FS
type: SiteQuality
SIO_000300: 0.0e0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.257130693912303e-5
allele num: 23490
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
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South Asian
type: Population
allele count: 0
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allele num: 10124
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FS
type: SiteQuality
SIO_000300: 2.064e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.325e0

MQ
type: SiteQuality
SIO_000300: 5.8e1

DP
type: SiteQuality
SIO_000300: 7.52167e5

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.238e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

Other
type: Population
allele count: 0
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allele num: 356
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African
type: Population
allele count: 1
allele frequency: 2.862049227246708e-4
allele num: 3494
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.280821917808219e-5
allele num: 23360
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 3808
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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allele num: 10076
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 7.46709e5

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.28e-2

FS
type: SiteQuality
SIO_000300: 1.4259e2

VQSLOD
type: SiteQuality
SIO_000300: -1.751e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.652e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
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Other
type: Population
allele count: 0
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allele num: 338
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East Asian
type: Population
allele count: 0
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African
type: Population
allele count: 1
allele frequency: 3.123048094940662e-4
allele num: 3202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 4.089422028353326e-4
allele num: 22008
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4918
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 1.55965e2

MQ
type: SiteQuality
SIO_000300: 5.905e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.403e0

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.118e2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.734e0

DP
type: SiteQuality
SIO_000300: 7.34507e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2150
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African
type: Population
allele count: 1
allele frequency: 4.835589941972921e-4
allele num: 2068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 7.055171440666008e-4
allele num: 14174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
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FS
type: SiteQuality
SIO_000300: 1.40908e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.398e0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.009999999999999e1

QD
type: SiteQuality
SIO_000300: 9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.581e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.01e-2

MQ
type: SiteQuality
SIO_000300: 5.867e1

DP
type: SiteQuality
SIO_000300: 6.62428e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 6.053268765133172e-4
allele num: 3304
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 9028
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.086e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.896e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

FS
type: SiteQuality
SIO_000300: 9.500999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.06e-2

DP
type: SiteQuality
SIO_000300: 6.63415e5

QD
type: SiteQuality
SIO_000300: 1.022e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.858e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12632
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.173622704507513e-4
allele num: 2396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.501e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 6.155e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.02e-2

QD
type: SiteQuality
SIO_000300: 8.92e0

DP
type: SiteQuality
SIO_000300: 6.28365e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.155e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -1.501e0

DP
type: SiteQuality
SIO_000300: 6.28365e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 8.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.45398773006135e-4
allele num: 8150
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

FS
type: SiteQuality
SIO_000300: 4.7982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.43e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.801e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.805e0

DP
type: SiteQuality
SIO_000300: 5.4451e5

QD
type: SiteQuality
SIO_000300: 1.1e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.824858757062147e-3
allele num: 708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.389371309482459e-3
allele num: 5758
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.456e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.85e-2

DP
type: SiteQuality
SIO_000300: 5.30488e5

VQSLOD
type: SiteQuality
SIO_000300: -8.631e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.38243e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.02e0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007518796992481e-4
allele num: 6650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179245283018868e-3
allele num: 848
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.99e-2

DP
type: SiteQuality
SIO_000300: 3.90212e5

MQRankSum
type: SiteQuality
SIO_000300: -1.871e0

MQ
type: SiteQuality
SIO_000300: 5.709e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.213e0

QD
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.417e0

FS
type: SiteQuality
SIO_000300: 2.3617e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.506e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

DP
type: SiteQuality
SIO_000300: 2.52491e5

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.404834865509023e-4
allele num: 5874
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 1.95021e2

MQ
type: SiteQuality
SIO_000300: 5.734e1

MQRankSum
type: SiteQuality
SIO_000300: -1.609e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 2.53497e5

VQSLOD
type: SiteQuality
SIO_000300: -3.714e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.92e-1

South Asian
type: Population
allele count: 1
allele frequency: 1.631853785900783e-4
allele num: 6128
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.19416e2

VQSLOD
type: SiteQuality
SIO_000300: -2.211e2

MQRankSum
type: SiteQuality
SIO_000300: -1.739e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.62e-1

DP
type: SiteQuality
SIO_000300: 2.40831e5

MQ
type: SiteQuality
SIO_000300: 5.621e1

QD
type: SiteQuality
SIO_000300: 8.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.302e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.290000000000001e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.666666666666667e-3
allele num: 300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.649006622516556e-3
allele num: 3020
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.211e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.290000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.19416e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 8.8e-1

MQ
type: SiteQuality
SIO_000300: 5.621e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.302e0

MQRankSum
type: SiteQuality
SIO_000300: -1.739e0

DP
type: SiteQuality
SIO_000300: 2.40831e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.139e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 2.35068e5

QD
type: SiteQuality
SIO_000300: 6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.681e1

MQRankSum
type: SiteQuality
SIO_000300: -1.752e0

FS
type: SiteQuality
SIO_000300: 1.44265e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 2.144388849177984e-3
allele num: 2798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 7.352941176470588e-3
allele num: 272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.22241e5

MQ
type: SiteQuality
SIO_000300: 5.567e1

FS
type: SiteQuality
SIO_000300: 2.83261e2

QD
type: SiteQuality
SIO_000300: 4.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.767e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.628e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: -7.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.730702665282105e-4
allele num: 5778
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.16e0

VQSLOD
type: SiteQuality
SIO_000300: -7.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 2.83261e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.567e1

DP
type: SiteQuality
SIO_000300: 2.22241e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.628e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.767e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.16e0

VQSLOD
type: SiteQuality
SIO_000300: -7.13e1

MQRankSum
type: SiteQuality
SIO_000300: -1.628e0

FS
type: SiteQuality
SIO_000300: 2.83261e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.767e-1

MQ
type: SiteQuality
SIO_000300: 5.567e1

DP
type: SiteQuality
SIO_000300: 2.22241e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.392757660167131e-3
allele num: 718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
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MQ
type: SiteQuality
SIO_000300: 5.609e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.71e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.97e0

DP
type: SiteQuality
SIO_000300: 2.58568e5

VQSLOD
type: SiteQuality
SIO_000300: -1.22e0

FS
type: SiteQuality
SIO_000300: 3.2732e1

MQRankSum
type: SiteQuality
SIO_000300: -1.531e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.673769287288758e-4
allele num: 5444
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -1.531e0

DP
type: SiteQuality
SIO_000300: 2.58568e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.71e-2

MQ
type: SiteQuality
SIO_000300: 5.609e1

FS
type: SiteQuality
SIO_000300: 3.2732e1

QD
type: SiteQuality
SIO_000300: 2.97e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.857142857142857e-3
allele num: 2800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.575757575757576e-3
allele num: 264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 1.24782e2

MQ
type: SiteQuality
SIO_000300: 5.444e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.738e0

QD
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.268000000000001e1

DP
type: SiteQuality
SIO_000300: 2.93726e5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.728309713100588e-4
allele num: 5786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.268000000000001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.29e-1

FS
type: SiteQuality
SIO_000300: 1.24782e2

QD
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.738e0

DP
type: SiteQuality
SIO_000300: 2.93726e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.444e1

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 8.578431372549019e-4
allele num: 8160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 918
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1032
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.519e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.506e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

FS
type: SiteQuality
SIO_000300: 8.3694e1

MQRankSum
type: SiteQuality
SIO_000300: -1.857e0

QD
type: SiteQuality
SIO_000300: 1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.553e0

DP
type: SiteQuality
SIO_000300: 4.60213e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.84e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.674854845913354e-4
allele num: 17912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2012
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2172
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
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VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.418e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

DP
type: SiteQuality
SIO_000300: 6.52616e5

QD
type: SiteQuality
SIO_000300: 2.4e-1

East Asian
type: Population
allele count: 1
allele frequency: 1.239464551313832e-4
allele num: 8068
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5926
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.697541135145129e-4
allele num: 10818
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.53765690376569e-5
allele num: 15296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.11892980240931e-5
allele num: 58606
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.064e0

QD
type: SiteQuality
SIO_000300: 1.081e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.288445e6

VQSLOD
type: SiteQuality
SIO_000300: -1.634e0

MQRankSum
type: SiteQuality
SIO_000300: -1.868e0

FS
type: SiteQuality
SIO_000300: 2.922e0

MQ
type: SiteQuality
SIO_000300: 5.319e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617128626410945e-5
allele num: 61838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
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FS
type: SiteQuality
SIO_000300: 6.115e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.234e1

DP
type: SiteQuality
SIO_000300: 1.356806e6

MQRankSum
type: SiteQuality
SIO_000300: -2.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.883e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

Latino
type: Population
allele count: 3
allele frequency: 2.650176678445229e-4
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.263980076975323e-4
allele num: 61838
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18962645729241e-4
allele num: 8406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.234e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.091e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.883e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

DP
type: SiteQuality
SIO_000300: 1.356806e6

FS
type: SiteQuality
SIO_000300: 6.115e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8664
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.178967224711153e-4
allele num: 8482
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

DP
type: SiteQuality
SIO_000300: 1.373653e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.661e1

QD
type: SiteQuality
SIO_000300: 6.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.182033096926714e-3
allele num: 846
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
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QD
type: SiteQuality
SIO_000300: 1.672e1

DP
type: SiteQuality
SIO_000300: 1.375933e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.665e1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8690
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQ
type: SiteQuality
SIO_000300: 5.665e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.672e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 1.375933e6

East Asian
type: Population
allele count: 4
allele frequency: 4.700352526439483e-4
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 61
allele frequency: 6.936547646122357e-3
allele num: 8794
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.459113112986107e-3
allele num: 63052
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.383706620723603e-4
allele num: 16252
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.694835680751174e-3
allele num: 852
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

FS
type: SiteQuality
SIO_000300: 7.739e0

VQSLOD
type: SiteQuality
SIO_000300: -1.431e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: -2.563e0

MQ
type: SiteQuality
SIO_000300: 5.162e1

DP
type: SiteQuality
SIO_000300: 1.393603e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8832
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63296
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.842978252856616e-4
allele num: 16278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 5.138e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.392234e6

MQRankSum
type: SiteQuality
SIO_000300: -7.43e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

MQ
type: SiteQuality
SIO_000300: 5.595e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -1.975e0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579030475288173e-5
allele num: 63330
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African
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Other
type: Population
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 16272
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.464e1

QD
type: SiteQuality
SIO_000300: 8.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.254e0

DP
type: SiteQuality
SIO_000300: 1.39219e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 1.253e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.362502362502362e-4
allele num: 63492
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Other
type: Population
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Latino
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allele count: 10
allele frequency: 8.698677800974252e-4
allele num: 11496
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 2
allele frequency: 2.344665885111372e-4
allele num: 8530
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VQSLOD
type: SiteQuality
SIO_000300: -4.26e-1

DP
type: SiteQuality
SIO_000300: 1.397783e6

MQ
type: SiteQuality
SIO_000300: 5.108e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 7.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.228652168571078e-4
allele num: 16278
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 3.092e1

DP
type: SiteQuality
SIO_000300: 1.397857e6

MQ
type: SiteQuality
SIO_000300: 5.26e1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570549063952758e-5
allele num: 63672
num of homozygotes: 0

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

African
type: Population
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allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

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

East Asian
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allele count: 0
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allele num: 8532
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16280
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VQSLOD
type: SiteQuality
SIO_000300: -4.306e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQ
type: SiteQuality
SIO_000300: 5.06e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e0

FS
type: SiteQuality
SIO_000300: 7.416e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.397849e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.337e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.14099946603009e-5
allele num: 63674
num of homozygotes: 0

East 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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 4.914e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.686e0

FS
type: SiteQuality
SIO_000300: 5.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 1.398056e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568922777620886e-5
allele num: 63738
num of homozygotes: 0

Latino
type: Population
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
allele num: 8900
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South Asian
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allele num: 16272
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.49e0

VQSLOD
type: SiteQuality
SIO_000300: -3.876e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

MQ
type: SiteQuality
SIO_000300: 4.871e1

DP
type: SiteQuality
SIO_000300: 1.398751e6

FS
type: SiteQuality
SIO_000300: 8.372999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63756
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
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South Asian
type: Population
allele count: 0
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allele num: 16266
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.11e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.398872e6

FS
type: SiteQuality
SIO_000300: 1.596e0

MQ
type: SiteQuality
SIO_000300: 5.345e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

QD
type: SiteQuality
SIO_000300: 1.055e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

South Asian
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allele count: 0
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allele num: 16248
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African
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allele frequency: 1.123343068973264e-4
allele num: 8902
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 866
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DP
type: SiteQuality
SIO_000300: 1.397946e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.467e0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63746
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African
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allele num: 8898
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
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Other
type: Population
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.55e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.397747e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.743e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.079e1

East Asian
type: Population
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allele num: 8526
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Other
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allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.162188809465122e-5
allele num: 16228
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European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.509882662985505e-4
allele num: 63748
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QD
type: SiteQuality
SIO_000300: 1.035e1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.296e0

MQ
type: SiteQuality
SIO_000300: 5.041e1

DP
type: SiteQuality
SIO_000300: 1.399109e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568725880839582e-5
allele num: 63746
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8908
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Latino
type: Population
allele count: 0
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allele num: 11504
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Other
type: Population
allele count: 0
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allele num: 868
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQ
type: SiteQuality
SIO_000300: 5.217e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

DP
type: SiteQuality
SIO_000300: 1.398367e6

QD
type: SiteQuality
SIO_000300: 1.055e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63746
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.16370808678501e-5
allele num: 16224
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Other
type: Population
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FS
type: SiteQuality
SIO_000300: 5.105e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.876e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.23e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.397984e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.889e0

MQ
type: SiteQuality
SIO_000300: 4.696e1

Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
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Latino
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16202
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
type: Population
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.549e0

FS
type: SiteQuality
SIO_000300: 1.809e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 4.876e1

South Asian
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allele count: 1
allele frequency: 6.176652254478072e-5
allele num: 16190
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Latino
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allele count: 0
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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allele num: 63720
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 4.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 4.929e0

DP
type: SiteQuality
SIO_000300: 1.394959e6

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

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

Latino
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allele count: 0
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allele num: 11476
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South Asian
type: Population
allele count: 1
allele frequency: 6.186587478346944e-5
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570845114671693e-5
allele num: 63660
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.392379e6

MQ
type: SiteQuality
SIO_000300: 4.901e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.059e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.023e1

Latino
type: Population
allele count: 0
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num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63636
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African
type: Population
allele count: 0
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South Asian
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allele count: 0
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East Asian
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allele count: 1
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QD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.391591e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

VQSLOD
type: SiteQuality
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African
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allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11474
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.57143755107172e-5
allele num: 63636
num of homozygotes: 0

Other
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allele num: 866
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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Other
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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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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.14287510214344e-5
allele num: 63636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.082e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.49e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.391209e6

MQ
type: SiteQuality
SIO_000300: 5.094e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.574e0

European (Finnish)
type: Population
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: 1.572079861656972e-5
allele num: 63610
num of homozygotes: 0

African
type: Population
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Other
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allele count: 0
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South Asian
type: Population
allele count: 0
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Latino
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 2.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

DP
type: SiteQuality
SIO_000300: 1.389806e6

African
type: Population
allele count: 0
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European (Finnish)
type: Population
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: 1.574505605239955e-5
allele num: 63512
num of homozygotes: 0

East Asian
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allele count: 0
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Latino
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.387481e6

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

FS
type: SiteQuality
SIO_000300: 3.305e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.256e1

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

Other
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allele count: 0
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Latino
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574307304785894e-5
allele num: 63520
num of homozygotes: 0

African
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allele count: 0
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allele num: 8814
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.194e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.21e-1

DP
type: SiteQuality
SIO_000300: 1.387647e6

VQSLOD
type: SiteQuality
SIO_000300: -1.212e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574654363367241e-5
allele num: 63506
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.46e1

QD
type: SiteQuality
SIO_000300: 1.171e1

MQ
type: SiteQuality
SIO_000300: 5.068e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.386913e6

VQSLOD
type: SiteQuality
SIO_000300: -2.515e0

MQRankSum
type: SiteQuality
SIO_000300: -1.897e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

Latino
type: Population
allele count: 14
allele frequency: 1.220788280432508e-3
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.480278422273782e-3
allele num: 862
num of homozygotes: 0

African
type: Population
allele count: 327
allele frequency: 3.704962610469069e-2
allele num: 8826
num of homozygotes: 8

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

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

MQ
type: SiteQuality
SIO_000300: 5.131e1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-1

DP
type: SiteQuality
SIO_000300: 1.395914e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

QD
type: SiteQuality
SIO_000300: 1.634e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.44140625e-4
allele num: 8192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.4469e1

QD
type: SiteQuality
SIO_000300: 1.231e1

VQSLOD
type: SiteQuality
SIO_000300: -2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.49e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.802e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.376153e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

Other
type: Population
allele count: 3
allele frequency: 3.480278422273782e-3
allele num: 862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0